QCB 540 Genetic Basis For Variation

GENETIC BASIS FOR VARIATION
(a) Explain the following terms: locus, allele, dominant, recessive, codominant, homozygous,
heterozygous, phenotype, and genotype
http://www.accessexcellence.org/RC/VL/GG/recessive.html
(b) Explain how genotype is linked to phenotype and how genes are inherited from one generation to
the next via the germ cells or gametes.
(c) Explain, with examples, how the environment may affect the phenotype.
(d) Use genetic diagrams to solve problems in dihybrid crosses, including those involving sex linkage,
autosomal linkage, epistasis, co-dominance and multiple alleles.
http://www.accessexcellence.org/RC/VL/GG/sex.html
http://www.accessexcellence.org/RC/VL/GG/x-linked.html
(e) Use genetic diagrams to solve problems involving test crosses.
http://www.accessexcellence.org/RC/VL/GG/mendel.html
(f) Explain the meaning of the terms linkage and crossing-over and explain the effect of linkage and
crossing-over on the phenotypic ratios from dihybrid crosses.
(g) Explain what is meant by the terms gene mutation and chromosome aberration. For chromosomal
aberration, knowledge of numerical [aneuploidy] and structural [translocation, duplication,
inversion, deletion] is required.
http://www.accessexcellence.org/RC/VL/GG/mutation.html
http://www.accessexcellence.org/RC/VL/GG/mutation2.html
(h) Describe the differences between continuous and discontinuous variation and explain the genetic
basis of continuous variation (many, additive, genes control a characteristic) and discontinuous
variation (one or few genes control a characteristic).
(i) Describe the causes of genetic variation in a population.
(j) Describe the interaction between loci (epistasis) and predict phenotypic ratios in problems
involving epistasis. (Knowledge of the expected ratio for various types of epistasis is not required;
focus of this section is on problem solving.)
http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel6.htm
(k) Use the chi square test to test the significance of differences between observed and expected
results.
http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel4.htm
(A) DEFINITIONS
Gene
It is a heritable sequence of nucleotides along a DNA molecule, which codes for a polypeptide, and hence
may have a phenotypic effect. A gene can be regarded as a unit of inheritance.
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Locus
Within each species, each gene occupies a fixed position on a particular chromosome. This place on a
chromosome is called a locus (Figure 1).
Allele
It is an alternative form of a gene that can be present on either one or both of a pair of homologous
chromosomes (Figure 1). Alleles of a gene occupy the same locus on a pair of homologous
chromosomes. They occur in pairs in a diploid cell although only one of the pair is represented in a
gamete.
Phenotype
This refers to the physical and chemical characteristics of an individual. The phenotype depends on the
genotype of an individual and the environment.
Genotype
Genotype is the term for the paired alleles that produce a phenotype.
Gene pair
This refers to the two alleles of a particular gene present in a diploid cell.
Homozygous
If the alleles of a gene pair are identical, e.g. AA or aa, the pair of alleles is homozygous.
Homozygote
This refers to an individual having a homozygous gene pair.
Heterozygous
If the alleles of a gene pair are different, e.g. Aa, the pair of alleles is heterozygous.
Heterozygote
This refers to an individual having a heterozygous gene pair.
Recessive allele
A recessive allele is one whose effect is expressed in the phenotype of a diploid individual only in the
presence of another identical allele, e.g. aa. A small letter is always used to represent a recessive allele.
An individual homozygous for a recessive allele is said to be homozygous recessive. Note that it is
incorrect to describe an allele as recessive without reference to the allele it is recessive to. It should be,
for example, the allele for white eye is recessive to the allele for red eye.
Dominant allele
A dominant allele can express itself whether it occurs in the homozygous or heterozygous condition, e.g.
AA or Aa. A capital letter is always used to represent a dominant allele. An individual homozygous for a
dominant allele is described as homozygous dominant.
Cross
This is the deliberate mating of two individuals in genetic analysis.
Selfing
Selfing refers to the fertilisation of a female gamete by a male gamete from the same individual. This term
is used for plants but not for animals because the animals used for genetic studies, e.g. mice, chickens
and Drosophila, are not hermaphrodites. Selfing over many generations can produce a pure line.
Members of a pure line are homozygous at the gene locus in question and are said to breed true or are
true-breeding or pure breeding. Individuals of a pure line are either homozygous dominant or
homozygous recessive but never heterozygous.
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Sibling mating
This refers to mating between siblings.
Test cross
An individual that shows the effect of a dominant allele can have two possible genotypes. For example, a
tall pea plant could either be homozygous dominant (TT) or heterozygous (Tt) for that gene. The
phenotype is identical in both cases. It is often necessary, however, to determine the genotype accurately.
This can be achieved by a test cross, i.e. crossing the individual of unknown genotype with one who is
homozygous recessive (tt) at the locus in question. A homozygous recessive individual is used because
all its gametes must contain the recessive allele of the gene, which will not have an effect on the
phenotype of the offspring. One can deduce the unknown genotype (either TT or Tt) from the phenotypes
of the offspring.
(a) A test cross on a tall pea plant whose genotype is TT will produce only tall offspring.
Parental genotypes : TT x tt
Gametes produced by parents : T t
Genotype of offspring : Tt
Phenotype of offspring : tall
(b) A test cross on a tall pea plant whose genotype is Tt will produce tall and short offspring in the
ratio of 1:1.
Parental genotypes : Tt x tt
Gametes produced by parents : ½ T ½ t t
Genotypes of offspring : ½ Tt ½ tt
Phenotypes of offspring : tall short
Phenotypic ratio of offspring : 1 1
Backcross
This refers to either crossing a heterozygous offspring with a homozygous recessive parent (e.g. Aa x aa)
or crossing a heterozygous offspring with a homozygous dominant parent (e.g. Aa x AA).
Characteristic and trait

A characteristic is a heritable feature that varies among individuals, such as flower colour. Each variant for
a characteristic, such as purple or white colour for flowers, is termed a trait.
(B) MONOHYBRID INHERITANCE
Gregor Mendel observed the patterns of inheritance in pea plants and formulated two laws in the 1860s.
Both laws could be related to the behaviour of chromosomes during meiosis. Mendel’s first law is known
as the Law of segregation.
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In modern terms, the Law of segregation is as follows: Each somatic cell of an individual carries two
alleles at any one locus. The alleles of a gene pair segregate (separate) from each other during anaphase
I of meiosis, which occurs during the formation of gametes. Half of the gametes carry one allele of a gene
pair while the other half carries the other allele (Figure 2). This law is related to the separation of
homologous chromosomes during anaphase I of meiosis.
The Law of segregation was based on work involving monohybrid crosses. A monohybrid cross is one
that is carried out between parents that differ in the alleles they possess for one particular gene, one
parent having two dominant alleles and the other two recessive alleles. All the offspring (called
monohybrids) have one dominant allele and one recessive allele for that gene (i.e. they are hybrid at that
one locus). The Law of segregation can be illustrated by the example below.
Method and Results for Mendel’s experiments
A pure-breeding tall pea plant was crossed with a pure-breeding short pea plant. Both are referred to as
the parental generation. Seeds from the above cross were sown. The seeds germinated and developed
into tall offspring. This is referred to as the first filial generation (F1 generation or Offspring 1). The F1
plants were selfed. The resulting seeds were germinated and the offspring were examined, classified and
counted. This is called the second filial generation (F2 generation or Offspring 2).
All individuals of the F1 generation were tall. About 75% of the F2 generation were tall and 25% were
short, i.e. the ratio of tall to short offspring was approximately 3:1.
Genetic basis for Mendel’s experiments
The phenotype apparent in the F1 generation is dominant and the other phenotype, which disappears in
the F1 generation but reappears in the F 2 generation, is recessive. Therefore, the allele for tallness is
dominant to that for shortness.
T represents the allele for tallness.

t represents the allele for shortness.
Parental phenotypes : Tall x Short
Parental genotypes : TT tt
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Gametes produced by parents : T t
Genotype and phenotype of F1 : Tt (All tall)
Selfing F1 generation : Tt x Tt
Gametes produced by F1 generation : ½ T ½ t ½ T ½ t
Punnett square to show the fusion of gametes produced by the F 1 generation:
♂ ½ T ½ t
♀
½ T ¼ TT ¼ Tt
½ t ¼ Tt ¼ tt
Genotypes of F2 generation : ¼ TT ½ Tt ¼ tt
Phenotypes of F2 generation : Tall Tall Short
Phenotypic ratio of F2 generation : 3 1
A test cross was carried out on the F1 generation to determine whether its genotype was TT or Tt. This
involved crossing the F1 generation with a short pea plant (tt). The test cross produced both tall and short
plants in the ratio of 1:1. This suggested that the genotype of the F 1 generation was Tt.
(C) DIHYBRID INHERITANCE
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Gregor Mendel observed the patterns of inheritance in pea plants and formulated two laws in the 1860s.
Both laws could be related to the behaviour of chromosomes during meiosis. Mendel’s second law is
known as the Law of independent assortment.
In modern terms, the Law of independent assortment is as follows: During meiosis, the separation of
the alleles of one gene pair is independent of the separation of alleles of other gene pairs. The Law of
independent assortment is related to the independent arrangement and separation of homologous
chromosomes during metaphase I and anaphase I, respectively (Figure 3).
Figure 3 shows two possible arrangements of two pairs of homologous chromosomes during metaphase
I; one pair carries the alleles A and a while the other carries the alleles B and b. The orientation of
homologous chromosomes shown in Figure 3a is equally as likely as that in Figure 3b because the
arrangement of one homologous pair is independent of the other.
In Figure 3a, the chromosome carrying allele A and the one carrying allele B move to the same pole while
the chromosome carrying allele a and the one carrying allele b move to the opposite pole. Cell 1 therefore
contains the alleles A and B while cell 2 contains the alleles a and b. Due to the orientation of homologous
chromosomes in Figure 3b, cell 3 contains the alleles A and b whereas cell 4 contains the alleles a and B.
As a result of independent arrangement and separation of homologous chromosomes, the genotype

AaBb gives rise to all four possible combinations of alleles (AB, ab, Ab and aB), which occur equally
frequently in the gametes.
Two genes are said to be linked when they are on the same pair of homologous chromosomes and are
unlinked when they are situated on different pairs of homologous chromosomes (Figure 4). The Law of
independent assortment applies only to genes that are unlinked. Genes on the same pair of homologous
chromosomes are affected by linkage and crossing over.
(C.I) DIHYBRID INHERITANCE OF UNLINKED LOCI
The Law of independent assortment was based on work involving dihybrid crosses. A dihybrid cross is
one that is carried out between parents that differ in two characteristics, which are controlled by genes at
two different loci. The law can be illustrated by the example below.
Method for Mendel’s experiments
Pure-bred pea plants grown from round seeds with yellow cotyledons were crossed with pure-bred pea
plants grown from wrinkled seeds with green cotyledons. The above cross gave rise to the F 1 generation.
The F1 plants were selfed to produce the F2 generation.
Results for Mendel’s experiments
All individuals of the F1 generation produced round seeds with yellow cotyledons. The F 2 generation
showed the following phenotypes in the ratio given below.
9 round seeds with yellow cotyledons - parental phenotype

3 round seeds with green cotyledons - non-parental phenotype
3 wrinkled seeds with yellow cotyledons - non-parental phenotype
1 wrinkled seeds with green cotyledons - parental phenotype
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The phenotypes apparent in the F 1 generation are dominant while the other phenotypes, which disappear
in the F1 generation but reappear in the F 2 generation, are recessive. Therefore, the alleles for round seed
and yellow cotyledon are dominant to those for wrinkled seed and green cotyledon, respectively.
R represents the allele for round seed.

r represents the allele for wrinkled seed.
Y represents the allele for yellow cotyledon.
y represents the allele for green cotyledon.
Parental phenotypes : Round seed, x Wrinkled seed,

yellow cotyledon green cotyledon
Parental genotypes : RRYY rryy
Gametes produced by : RY ry
parents
Genotype and : RrYy

phenotype of F1 (All of round seed and yellow cotyledon)
generation
Selfing F1 generation : RrYy x RrYy
Segregation with Segregation with

independent assortment independent assortment
Gametes produced : ¼ RY ¼ Ry ¼ rY ¼ ry ¼ RY ¼ Ry ¼ rY ¼ ry
by F1 generation
¼ RY ¼ Ry ¼ rY ¼ ry
¼ RY 1/16 RRYY 1/16 RRYy 1/16 RrYY 1/16 RrYy
¼ Ry 1/16 RRYy 1/16 RRyy 1/16 RrYy 1/16 Rryy
¼ rY 1/16 RrYY 1/16 RrYy 1/16 rrYY 1/16 rrYy
¼ ry 1/16 RrYy 1/16 Rryy 1/16 rrYy 1/16 rryy
Genotypes of F2 1 RRYY 2 Rryy 1 rrYY 1 rryy

generation: 2 RRYy 1 RRyy 2 rrYy
2 RrYY
4 RrYy
Phenotypes of F2 Round seed, Round seed, Wrinkled seed, Wrinkled seed,

generation: yellow cotyledon green cotyledon yellow cotyledon green cotyledon
Phenotypic ratio 9 3 3 1
of F2 generation:
Test cross on F1 generation
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A test cross was carried out on the F 1 generation to determine whether its genotype was RRYY, RrYY,
RRYy or RrYy. This involved crossing the F 1 generation with a pea plant with wrinkled seed and green
cotyledon (rryy).
The test cross produced offspring of the following phenotypes in the ratio of 1:1:1:1. Therefore, the
genotype of the F1 generation was RrYy.
Round seed with yellow cotyledon

Round seed with green cotyledon
Wrinkled seed with yellow cotyledon
Wrinkled seed with green cotyledon
The genotype of F1 generation could not be RRYY, RrYY or RRYy because test crosses with these
genotypes would not give a phenotypic ratio of 1:1:1:1.
Conclusion
If both parents of a dihybrid cross are homozygous at the gene loci in question and show contrasting
phenotypes, the phenotypic ratios of the F 2 generation and of the test cross on the F 1 generation are
approximately 9:3:3:1 and 1:1:1:1, respectively. In solving problems involving dihybrid crosses, these
ratios enable one to predict that the two gene loci in question are unlinked. If the two gene loci are linked,
crossing over can occur and other phenotypic ratios will be observed.
(C.II) DIHYBRID INHERITANCE OF LINKED LOCI WITHOUT CROSSING OVER
Method and Results for Mendel’s experiments
When pure-breeding Drosophila with long wings and broad abdomen was crossed with pure-breeding
Drosophila with vestigial wings and narrow abdomen, all the F 1 offspring had long wings and broad
abdomen.
When the F1 flies were mated, the F2 generation failed to give the 9:3:3:1 ratio. Instead about 75% of the
F2 offspring had long wings and broad abdomen, and the remaining 25% had vestigial wings and narrow
abdomen. Note that these are parental phenotypes.
The explanation is that the genes determining the length of wings and the width of abdomen are located
very near each other on the same chromosome. In other words, the two genes are tightly linked. When
two genes are tightly linked, a chiasma will not form between them and they will not be separated by
crossing over. The two genes tend to be inherited together. Two tightly linked genes can be thought of as
only one gene and not two, and so the F2 generation gives a phenotypic ratio of 3:1. Note that this ratio is
the same as that for monohybrid inheritance.
in the F1 generation but reappear in the F 2 generation, are recessive. Therefore, the alleles for long wing
and broad abdomen are dominant to those for vestigial wing and narrow abdomen, respectively.
L represents the allele for long wing.

l represents the allele for vestigial wing.
B represents the allele for broad abdomen.
b represents the allele for narrow abdomen.
The alleles for long wing and broad abdomen are dominant to those for vestigial wing and narrow
abdomen, respectively.
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Parental : Long wing, x Vestigial wing,
phenotypes broad abdomen narrow abdomen
Parental : L B l b
genotypes ______ ______
______ ______
L B l b
Gametes : L B l b
produced by ______ ______
parents
Genotype and : L B
phenotype of ______
F1 generation ______
l b
All the Drosophila had long-wings and broad abdomen.
Crossing F1 : L B x L B
generation ______ ______
______ ______
l b l b
Gametes : L B l b L B l b
produced by F1
generation
Genotypes of : L B L B l b l b
F2 generation ______ ______ ______ ______
______ ______ ______ ______
L B l b L B l b
Phenotypes of : Long wings, Long wings, Long wings, Vestigial

F2 generation broad broad broad wings,
abdomen abdomen abdomen narrow
abdomen
Phenotypic ratio :
of F2 generation 3: 1
Genetic basis for test cross on F1 generation
A test cross carried out on the F1 generation gave a phenotypic ratio of 1:1. Note that this ratio was the
same as that for monohybrid inheritance.
Test cross on : L B x l b
F1 generation ______ ______
______ ______
l b l b
Gametes : L B l b l b
produced ______ ______ ______
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Genotypes of : L B l b
offspring ______ ______
______ ______
l b l b
Phenotypes of : Long wings, broad abdomen Vestigial wings, narrow abdomen

offspring
Phenotypic ratio : 1 1
(C.III) DIHYBRID INHERITANCE OF LINKED LOCI WITH CROSSING OVER
Genes that are located not very near each other on the same chromosome can be separated when
crossing over occurs during meiosis. During prophase I of meiosis, the chromatids of homologous
chromosomes can be seen to be in contact with each other at certain points along their length. At these
points, known as chiasmata, the chromatids break and rejoin. The result is that portions of the chromatids
belonging to the two homologous chromosomes exchange places, so chiasmata result in crossing over.
Eventually, the chromatids end up in separate gametes, and after fertilisation, give rise to new
combinations of alleles in the offspring. Such offspring are called recombinants.
Method and Results for experiments
When pure-breeding Drosophila with ebony (black) body and curled wings were crossed with pure-
breeding Drosophila with grey body and straight wings, all the F 1 offspring showed grey body and straight
wings. Sibling mating of F1 offspring failed to give a phenotypic ratio of 9:3:3:1 or 3:1 in the F 2 generation.
Test cross on the F1 offspring yielded the following results:
536 offspring with grey body and straight wings

481 offspring with ebony body and curled wings
101 offspring with grey body and curled wings
152 offspring with ebony body and straight wings
Genetic basis for experiments
in the F1 generation but reappear in the F 2 generation, are recessive. Therefore, the alleles for grey body
and straight wing are dominant to those for ebony body and curled wing, respectively.
G represents the allele for grey body.

g represents the allele for ebony body.
S represents the allele for straight wings.
s represents the allele for curled wings.
Parental : Grey body, x Ebony body,

phenotypes straight wings curled wings
Parental : G S g s
genotypes _________ _________
_________ _________
G S g s
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Gametes : G S g s
produced by _________ _________
parents
Genotype and : G S
phenotype of _________
F1 generation _________
g s
All the Drosophila had grey body and straight wings.
Test cross on : G S x g s
F1 generation _________ _________
_________ _________
g s g s
No crossing over Crossing over
Gametes G S g s G s g S g s
formed : _________ _________ _________ _________ _________
Genotypes G S g s G s g S
of _________ _________ _________ _________
offspring : _________ _________ _________ _________
g s g s g s g s
Phenotypes Grey body, Ebony body, Grey body, Ebony body,

of offspring : straight curled curled straight
wings wings wings wings
Number of 536 481 101 152

offspring :
Note that the offspring show a higher percentage of parental phenotypes than non-parental phenotypes.
(D) INCOMPLETE DOMINANCE AND CO-DOMINANCE
In incomplete dominance and co-dominance, the locus controlling a particular characteristic has only two
alleles. However, there are three variations (phenotypes or traits) for the characteristic.
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(D.I) INCOMPLETE DOMINANCE
Incomplete dominance is the situation where the heterozygote exhibits a phenotype which is intermediate
between the two homozygous forms.
An example of incomplete dominance occurs in snapdragon (Antirrhinum). Flower colour in snapdragon is

controlled by two alleles of a flower-colour gene. Individuals that are homozygous for the red-flower allele
have red flowers while those that are homozygous for the white-flower allele have white flowers.
Heterozygotes have pink flowers; a flower colour which is intermediate between red and white (Table 1).
Method and Results for experiments
A cross was made between two pure-breeding strains of snapdragon; one red and one white. All
individuals of the F1 generation had pink flowers. Selfing the F1 generation gave a ratio of 1 Red : 2 Pink :
1 White in the F2 generation.
Genetic basis for incomplete dominance
R represents the allele for red flower.

W represents the allele for white flower.
Parental phenotypes : Red flower x White flower
Parental genotypes : RR WW
Gametes produced by parents : R W
Genotype and phenotype of F1 generation : RW (All have pink flowers.)
Selfing F1 generation : RW X RW
Gametes produced by F1 generation : ½ R ½ W ½ R ½ W
½ R ½ W
½ R ¼ RR ¼ RW
½ W ¼ RW ¼ WW
Genotypes of F2 generation : ¼ RR ½ RW ¼ WW
Phenotypes of F2 generation : Red flower Pink flower White flower
Phenotypic ratio of F2 generation : 1 2 1
Biochemical basis for incomplete dominance
Incomplete dominance in the heterozygote of snapdragon can be explained by postulating that the allele,
R, when present in only one copy per cell, produces inadequate enzyme to synthesise enough red
pigment. Consequently, the heterozygotes are pink. The allele W codes for a non-functional enzyme.
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Table 1 Flower colour in snapdragon
Genotypes Phenotypes
RR Red flower
WW White flower
RW Pink flower
(D.II) CO-DOMINANCE
Co-dominance is the situation in which both alleles are equally expressed in the phenotype of the
heterozygote.
An example of co-dominance is provided by the MN blood group system in humans, which is controlled
by a single gene (Table 2). One allele of the MN blood group gene results in the production of protein M
on the red blood cell membrane while the other allele results in the formation of protein N. Since neither
allele is recessive, the capital- and small-letter system of representing dominant and recessive alleles is
inappropriate. Instead, capital letters are used for both alleles.
Genetic basis for co-dominance
M represents the allele for the production of protein M.

N represents the allele for the production of protein N.
Parental phenotypes : Blood group M x Blood group N
Parental genotypes : MM NN
Gametes produced by parents : M N
Genotype of F1 generation : MN
Phenotype of F1 generation : All of blood group MN
Biochemical basis for co-dominance
In co-dominance, both alleles of a gene code for functional products. Both products appear in the
heterozygote. Note that the MN phenotype is not intermediate between the M phenotype and N
phenotype, which distinguishes codominance from incomplete dominance.
Table 2 MN blood group system in humans
MM Blood group M
NN Blood group N
MN Blood group MN
(E) MULTIPLE ALLELES
If a gene controlling a characteristic has three or more alleles, the alleles are called multiple alleles. In
any one individual, at most two alleles can be present.
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An example of multiple alleles is provided by the alleles of the gene controlling the ABO blood group
system in humans.
Genetic basis for human ABO blood group system
The gene for the ABO blood group system is conventionally represented by the symbol I. The gene has
three alleles.
IA represents the allele for the production of type A antigen.

IB represents the allele for the production of type B antigen.
Io represents the allele that produces neither antigen.
The alleles IA and IB show equal dominance with respect to each other, i.e. they are co-dominant, but each
is dominant to Io. Only two of the three alleles can be present in an individual. Table 3 shows the possible
genotypes one can have. For blood group AB, both type A and B antigens are present on the red blood
cell membrane.
Table 3 ABO blood group system in humans
I AI A Blood group A
I AI o Blood group A
I BI B Blood group B
I BI o Blood group B
I AI B Blood group AB
Io Io Blood group O
(F) PLEIOTROPY
So far, we have treated Mendelian inheritance as though each gene affects only one phenotypic
characteristic. Most genes, however, have multiple phenotypic effects, a property called pleiotropy. In
humans, for example, pleiotropic alleles are responsible for the multiple symptoms associated with certain
hereditary diseases, such as cystic fibrosis and sickle-cell disease. In the garden pea, the gene that
determines flower colour also affects the colour of the coating on the outer surface of the seed, which can
be grey or white.
In the case of cystic fibrosis, the normal allele for the gene codes for a membrane protein that functions in
the transport of chloride ions between certain cells and the extracellular fluid. These chloride transport
channels are defective or absent in the plasma membranes of children who inherit two recessive alleles
for cystic fibrosis. The result is an abnormally high concentration of extracellular chloride, which causes
the mucus that coats certain cells to become thicker and stickier than normal. The mucus builds up in the
pancreas, lungs, digestive tract, and other organs, leading to multiple (pleiotropic) effects, including poor
absorption of nutrients from the intestines, chronic bronchitis, and recurrent bacterial infections.
Given the intricate molecular and cellular interactions responsible for an organism’s development and
physiology, it is not surprising that a single gene can affect a number of characteristics in an organism.
(G) SEX DETERMINATION
There are 23 pairs of chromosomes in humans. Of these, the first 22 pairs (numbered 1 to 22) appear
identical in both male and female (Figure 5). These chromosomes are known as autosomes or
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autosomal chromosomes, and are not involved in sex determination. In contrast, the 23 rd pair appears
identical in the female but differs in the male. These are the sex chromosomes and are involved in sex
determination.
Human sex chromosomes
In the female, the two sex chromosomes appear identical and are called X chromosomes (Figure 6a). In
the male, there is one X chromosome and one Y chromosome. The Y chromosome is shorter than the
X chromosome and carries very few genes as compared to the X chromosome (Figure 6b).
Production of gametes in humans
In humans, the female produces one type of gamete. All the egg cells carry an X chromosome. Hence,
the female is described as homogametic. In contrast, the male produces two types of gametes. Half of
the sperm cells carry an X chromosome while the other half carries a Y chromosome. The male is thus
heterogametic.
Sex determination in humans
The sex of an offspring is determined by the sperm that fertilises the egg cell. The egg cell may be
fertilised by a sperm carrying an X chromosome. The zygote produced will have two X chromosomes and
will develop into a female (Figure 7). The egg cell is equally likely to be fertilised by a sperm carrying a Y
chromosome. The zygote produced will have one X chromosome and one Y chromosome, and will
develop into a male. The Y chromosome has a testicular differentiating gene. This gene codes for a
product that acts on the undifferentiated gonads of the young embryo and causes them to differentiate
into the testes. In the absence of the product coded for by the testicular differentiating gene, as in the
female, the undifferentiated gonads develop into ovaries.
Sex determination in other animals
In Drosophila, the female is XX and the male is XY. The male is not always the heterogametic sex. In
birds, the male is the homogametic sex (XX) and the female is the heterogametic sex (XY). In honeybees,
the females develop from fertilised eggs while the males develop from unfertilised eggs. This means that
in honeybees, the females are diploid while the males are haploid. This is known as the haplodiploid
system. Note that the female has twice as many chromosomes as the male.
(H) SEX LINKAGE
Sex linkage refers to the carrying of genes on the sex chromosomes. The genes are mostly located on
the X chromosome (rather than on the Y chromosome).
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Sex-linked characteristics are non-sexual characteristics controlled by genes on the sex chromosomes.
Examples include haemophilia and red-green colour blindness in humans, and white eye colour in
Drosophila.
(H.I) HAEMOPHILIA IN HUMANS
Haemophilia refers to the reduced ability of blood to clot, due to deficiency of one of the blood clotting
factors.
Genetic basis for haemophilia
The allele for normal blood clotting is dominant to that for haemophilia.
XH represents the X chromosome with the allele for normal blood clotting.
Xh represents the X chromosome with the allele for haemophilia.
Y represents the Y chromosome with neither allele.
Table 4 shows the genotypes for normal and haemophiliac male and female individuals.
Table 4 Haemophilia in humans.
XHXH Normal female
XHXh Normal carrier female
XhXh Haemophiliac female
XHY Normal male
XhY Haemophiliac male
In the female, the presence of an allele for haemophilia can be masked by an allele for normal blood
clotting. This type of individual is described as a carrier (X HXh). A carrier does not suffer from
haemophilia, i.e. shows normal blood clotting, but can transmit the allele for haemophilia to the offspring.
In the male, the presence of an allele for haemophilia is sufficient to produce the disease because the Y
chromosome does not carry an allele for normal blood clotting to mask the recessive allele.
Haemophilia is more common in males than in females. This is because males need only one copy of the
defective allele to suffer from haemophilia whereas females require two copies of the defective allele to
be a sufferer. Moreover, female haemophiliacs normally die of bleeding when they reach puberty.
(H.II) RED-GREEN COLOUR BLINDNESS IN HUMANS
Red-green colour blindness is the inability to distinguish between red and green.
Genetic basis for colour blindness
The allele for normal vision is dominant to that for colour blindness.
XC represents the X chromosome with the allele for normal vision.

Xc represents the X chromosome with the allele for colour blindness.
Table 5 shows the genotypes of normal and colour-blind male and female individuals.
Table 5 Red-green colour blindness in humans
16
XCXC Normal female
XCXc Normal carrier female
XcXc Colour-blind female
XCY Normal male
XcY Colour-blind male
Parental phenotypes : Normal female x Colour-blind male
Parental genotypes : XCXC XcY
Gametes produced by parents : XC ½ Xc ½ Y
Genotypes of F1 generation : ½ XCXc ½ X CY
Phenotypes of F1 generation : Normal carrier Normal male

female
Crossing F1 generation : XCXc x XCY
Gametes produced by F1 generation : ½ XC ½ Xc ½ XC ½ Y
½ XC ½ Y
½ XC ¼ X CX C ¼ X CY
½ Xc ¼ X CX c ¼ XcY
Genotypes of F2 generation : ¼ X CX C ¼ XCXc ¼ X CY ¼ Xc Y
Phenotypes of F2 generation : Normal Normal Normal Colour-blind

female carrier male male
female
Note that the allele for colour blindness is passed from one sex to the other at each generation. The
father passes it to his daughters, who thus become carriers. The daughters in turn may pass it to their
sons, who are thus colour-blind.
(H.III) RECIPROCAL CROSS
A reciprocal cross is one where the same genetic features are used, but the sexes are reversed. For
example, the reciprocal cross for crossing a red-eyed female Drosophila with a white-eyed male
Drosophila is crossing a red-eyed male Drosophila with a white-eyed female Drosophila. It is used to
determine whether a characteristic is X-linked.
To determine if the locus for eye colour in Drosophila is on the X chromosome, the following crosses are
performed: (a) Crossing a red-eyed female Drosophila with a white-eyed male Drosophila, followed by
sibling mating of the F 1 generation. (b) Crossing a red-eyed male Drosophila with a white-eyed female
Drosophila, followed by sibling mating of the F1 generation.
In order to deduce that the locus for eye colour in Drosophila is on the X chromosome, the following
results must be observed in the F2 generation: (a) Male and female Drosophila are in roughly equal
17
numbers for both crosses mentioned above. (b) The ratio of the number of individuals showing the effect
of the dominant allele to the number of individuals showing the effect of the recessive allele is different for
both crosses mentioned above.
Genetic basis for eye colour in Drosophila
The allele for red eye is dominant to that for white eye. Red eye is considered to be the normal eye
colour.
XR represents the X chromosome with the allele for red eye.

Xr represents the X chromosome with the allele for white eye.
(a) Crossing a red-eyed female Drosophila with a white-eyed male Drosophila, followed by sibling mating
of the F1 generation.
Parental phenotypes : Red-eyed female x White-eyed male
Parental genotypes : XRXR XrY
Gametes produced by parents : XR ½ Xr ½ Y
Genotypes of F1 generation : ½ XRXr ½ X RY
Phenotypes of F1 generation : Red-eyed female Red-eyed male
Sibling mating of F1 generation : XRXr x XRY
Gametes produced by F1 generation : ½ XR ½ Xr ½ XR ½ Y
Genotypes of F2 generation : ¼ XRXR ¼ X RX r ¼ X RY ¼ XrY
The ratio of male to female individuals in the F 2 generation is 1:1.
The ratio of red-eyed to white-eyed individuals in the F 2 generation is 3:1.
(b) Crossing a red-eyed male Drosophila with a white-eyed female Drosophila, followed by sibling mating
of the F1 generation.
Parental phenotypes : Red-eyed male x White-eyed female
Parental genotypes : XRY XrXr
Gametes produced by parents : ½ XR ½ Y Xr
Genotypes of F1 generation : ½ XRXr ½ XrY
Phenotypes of F1 generation : red-eyed female white-eyed male
Sibling mating of F1 generation : XRXr x XrY
Gametes produced by F1 generation : ½ XR ½ Xr ½ Xr ½ Y
Genotypes of F2 generation : ¼ X RX r ¼ XrXr ¼ X RY ¼ XrY
The ratio of male to female individuals in the F 2 generation is 1:1.
18
The ratio of red-eyed to white-eyed individuals in the F 2 generation is 1:1.
Therefore, it can be concluded that the locus for eye colour in Drosophila is on the X
chromosome.
(H.IV) USE OF PEDIGREE IN ANALYSIS OF INHERITANCE IN HUMANS
Figure 8 is often used to show how family members are related to each other and how a particular
characteristic or disease has been inherited from an ancestor. It is more difficult to investigate the patterns
of inheritance in Man than in peas and fruit flies. The reasons for this are as follows: (a) Matings cannot
be arranged amongst people. (b) Only a small number of offspring is produced from each couple per
generation. (c) There is a reluctance to discuss defective traits in families. (d) Memories of pedigrees only
cover a few generations. (e) The generation time of humans (i.e. time from birth to reproductive age) is
long.
(I) EPISTASIS
Epistasis is defined as an interaction between two different genes such that one gene (epistatic gene)
interferes with or even inhibits the phenotypic expression of the other gene (hypostatic gene). Epistasis
19
can be divided into two types, namely recessive epistasis and dominant epistasis. In recessive
epistasis, the presence of two copies of an allele at a locus will inhibit the expression of the hypostatic
gene. Examples of recessive epistasis include (i) flower colour in sweet pea, and (ii) coat colour in mice.
In dominant epistasis, the presence of one copy of an allele at a locus is sufficient to inhibit the
expression of the hypostatic gene. Examples of dominant epistasis include (i) feather colour in chickens,
and (ii) coat colour in cats. The type of epistasis (whether recessive or dominant) is often revealed by
certain ratios in the F2 generation.
(I.I) RECESSIVE EPISTASIS
Example 1: Flower colour in sweet pea
It is possible to obtain two different pure-breeding varieties of sweet pea, both of which have white
flowers. Their genotypes are CCpp and ccPP. When these two varieties are crossed, all the F 1 offspring
have purple flowers. Selfing the F1 offspring produces F2 offspring in the ratio of 9 purple to 7 white. How
do you explain these results?
Genetic basis for flower colour in sweet pea
C represents the allele for the functional enzyme E 1.

c represents the allele for the non-functional enzyme E1.
P represents the allele for the functional enzyme E2.
p represents the allele for the non-functional enzyme E 2.
The alleles C and P are dominant to the alleles c and p, respectively.
Parental phenotypes : White flowers x White flowers
Parental genotypes : CCpp ccPP
Gametes produced : Cp cP
by parents
Genotype and : CcPp (Purple flowers)

phenotype of F1
generation
Selfing F1 generation : CcPp CcPp

Gametes produced : ¼ CP ¼ Cp ¼ cP ¼ cp ¼ CP ¼ Cp ¼ cP ¼ cp
by F1 generation
¼ CP ¼ Cp ¼ cP ¼ cp
20
¼ CP 1/16 CCPP 1/16 CCPp 1/16 CcPP 1/16 CcPp
¼ Cp 1/16 CCPp 1/16 CCpp 1/16 CcPp 1/16 Ccpp
¼ cP 1/16 CcPP 1/16 CcPp 1/16 ccPP 1/16 ccPp
¼ cp 1/16 CcPp 1/16 Ccpp 1/16 ccPp 1/16 ccpp
Genotypes of F2 : CCPP, CCPp, CCpp, ccPP, ccpp,

generation CcPP, CcPp Ccpp, ccPp
Phenotypes of F2 : Purple flowers White flowers

generation
Phenotypic ratio of : 9 7
F2 generation
Biochemical basis for flower colour in sweet pea
Figure 9 shows the biochemical pathway leading to the development of the purple flower colour. The
compounds X and Y are both colourless. Conversion of X to Y is catalysed by an enzyme designated E 1
while the conversion of Y to the purple pigment Z is dependent on the enzyme E 2.
A plant which has the genotype CCpp will be white since it cannot produce functional E 2 and cannot,
therefore, convert Y to the purple pigment. A sweet pea which is ccPP will also be white since it cannot
produce functional E1 and hence cannot produce Y which is essential for the synthesis of the purple
pigment. In the sweet pea, cc is epistatic to the P locus because cc prevents the phenotypic expression of
alleles at the P locus. Similarly, pp is epistatic to the C locus.
Example 2: Coat colour in mice
In mice, the allele for black coat colour is dominant to that for brown coat colour. Let’s designate B and b
as the two alleles for this characteristic. For a mouse to have brown fur, its genotype must be bb. A
second gene determines whether or not pigment will be deposited in the hair. The dominant allele,
symbolised by C (for colour) results in the deposition of either black or brown pigment, depending on the
genotype at the first locus. But if the mouse is homozygous recessive for the second locus (cc), then the
coat is white (albino), regardless of the genotype at the black/brown locus. In this case, the gene for
pigment deposition (C/c) is said to be epistatic to the gene that codes for black or brown pigment (B/b).
When pure-bred white mice are mated with pure-bred brown mice, all the F 1 offspring are black. Sibling
mating of F1 generation produced F2 offspring in the ratio of 9 black to 3 brown to 4 white. How do you
explain these observations?
Genetic basis for coat colour in mice
C represents the allele for deposition of coloured pigment.

c represents the allele for non-deposition of coloured pigment.
B represents the allele for black coat colour.
b represents the allele for brown coat colour.
Alleles C and B are dominant to alleles c and b, respectively.
Parental phenotypes : White coat colour x Brown coat colour
21
Parental genotypes : BBcc bbCC
Gametes produced : Bc bC
by parents
Genotype and : BbCc (Black coat colour)

phenotype of F1
generation
Sibling mating of : BbCc x BbCc

F1 generation
Gametes produced : ¼ BC ¼ Bc ¼ bC ¼ bc ¼ BC ¼ Bc ¼ bC ¼ bc
by F1 generation
¼ BC ¼ Bc ¼ bC ¼ bc
¼ BC 1/16 BBCC 1/16 BBCc 1/16 BbCC 1/16 BbCc
¼ Bc 1/16 BBCc 1/16 BBcc 1/16 BbCc 1/16 Bbcc
¼ bC 1/16 BbCC 1/16 BbCc 1/16 bbCC 1/16 bbCc
¼ bc 1/16 BbCc 1/16 Bbcc 1/16 bbCc 1/16 bbcc
Genotypes of F2 : BBCC, BBCc, bbCC, bbCc BBcc, Bbcc,

generation BbCC, BbCc bbcc
Phenotypes of F2 : Black coat colour Brown coat colour White coat colour
generation
Phenotypic ratio of : 9 3 4
F2 generation
As a result of epistasis, the phenotypic ratio among the F 2 offspring is 9 black to 3 brown to 4 white. Other
types of epistatic interactions produce different ratios, but all are modified versions of 9:3:3:1.
(I.II) DOMINANT EPISTASIS
Example 1: Feather colour in chickens
Dominant epistasis is illustrated by the inheritance of feather colour in chickens. Here there is an allele, I,
that is epistatic to the colour gene C. Individuals carrying the dominant allele I will have white plumage
even if they are carrying the dominant allele C for colour. For example, an individual with the genotype
IiCC will be white. Note that individuals which are homozygous recessive for the colour gene (cc) will also
be white.
White Leghorn chickens have white feathers because their genotype is IICC. White Wyandotte chickens
also have white feathers but their genotype is iicc. What are the expected phenotypes of the F 1 and F2
generations produced by crossing white Leghorns and white Wyandottes?
22
Genetic basis for feather colour in chickens
I represents the allele that inhibits the expression of the colour gene.
C represents the allele for coloured feathers.
c represents the allele for white feathers.
The allele for coloured feathers is dominant to the allele for white feathers.
The allele, I, is epistatic to the gene that codes for coloured or white feathers (C/c).
Parental phenotypes : White feathers x White feathers
Parental genotypes : IICC iicc
Gametes produced : IC ic
by parents
Genotype and : IiCc (White feathers)

phenotype of F1
generation
Sibling mating of : IiCc x IiCc

F1 generation
Gametes produced : ¼ IC ¼ Ic ¼ iC ¼ ic ¼ IC ¼ Ic ¼ iC ¼ ic
by F1 generation
¼ IC ¼ Ic ¼ iC ¼ ic
¼ IC 1/16 IICC 1/16 IICc 1/16 IiCC 1/16 IiCc
¼ Ic 1/16 IICc 1/16 IIcc 1/16 IiCc 1/16 Iicc
¼ iC 1/16 IiCC 1/16 IiCc 1/16 iiCC 1/16 iiCc
¼ ic 1/16 IiCc 1/16 Iicc 1/16 iiCc 1/16 iicc
Genotypes of F2 : IICC, IICc, IIcc, IiCC, iiCC, iiCc

generation IiCc, Iicc, iicc
Phenotypes of F2 : White feathers Coloured feathers

generation
Phenotypic ratio of : 13 3
F2 generation
All the F1 offspring will have the genotype IiCc and will be white. Sibling mating of F 1 generation gives a
phenotypic ratio of 13 white to 3 coloured in the F2 generation.
Example 2: Coat colour in cats
23
When pure-bred brown cats are mated with pure-bred white cats, all the F 1 offspring are white. Sibling
mating of F1 generation produced 118 white, 32 black and 10 brown kittens. How do you account for
these observations?
Genetic basis for coat colour in cats
W represents the allele that inhibits the expression of the colour gene.
B represents the allele for black coat.
b represents the allele for brown coat.
The allele for black is dominant to the allele for brown.

The allele, W is epistatic to the alleles of the colour gene (B and b).
Parental phenotypes : Brown coat x White coat
Parental genotypes : wwbb WWBB
Gametes produced : wb WB
by parents
Genotype and : WwBb (White coat)

phenotype of F1
generation
Sibling mating of : WwBb x WwBb

F1 generation
Gametes produced : ¼ WB ¼ Wb ¼ wB ¼ wb ¼ WB ¼ Wb ¼ wB ¼ wb
by F1 generation
¼ WB ¼ Wb ¼ wB ¼ wb
¼ WB 1/16 WWBB 1/16 WWBb 1/16 WwBB 1/16 WwBb
¼ Wb 1/16 WWBb 1/16 WWbb 1/16 WwBb 1/16 Wwbb
¼ wB 1/16 WwBB 1/16 WwBb 1/16 wwBB 1/16 wwBb
¼ wb 1/16 WwBb 1/16 Wwbb 1/16 wwBb 1/16 wwbb
Genotypes of F2 : WWBB, WWBb, WWbb, wwBB, wwBb wwbb

generation WwBB, WwBb, Wwbb
Phenotypes of F2 : White Black Brown

generation
Phenotypic ratio of : 12 3 1
F2 generation
(J) COLLABORATION
24
Collaboration is defined as two different genes influencing the same characteristic interact to produce a
phenotype that neither could produce alone. In fowls, the shape of the comb is controlled by the alleles of
two genes interacting with each other.
Fowls have one of the four comb shapes – pea, rose, walnut or single. A walnut comb is produced when
the allele for pea comb interacts with the allele for rose comb. A pea comb arises when the allele for pea
comb is present without the allele for rose comb. When the allele for rose comb is present without the
allele for pea comb, a rose comb appears. In the absence of the alleles for pea comb and rose comb, a
single comb develops.
What are the phenotypes of the F 1 and F2 generations produced by crossing pure-bred chickens with
walnut comb and pure-bred chickens with single comb? How do you account for these phenotypes?
Genetic basis for shape of combs in fowls
P represents the allele for pea comb.

p represents the allele for single comb.
R represents the allele for rose comb.
r represents the allele for single comb.
Parental phenotypes : Walnut comb x Single comb
Parental genotypes : RRPP rrpp
Gametes produced : RP rp
by parents
Genotype and : RrPp (Walnut comb)

phenotype of F1
generation
Sibling mating of : RrPp x RrPp

F1 generation
Gametes produced : ¼ RP ¼ Rp ¼ rP ¼ rp ¼ RP ¼ Rp ¼ rP ¼ rp
by F1 generation
¼ RP ¼ Rp ¼ rP ¼ rp
¼ RP 1/16 RRPP 1/16 RRPp 1/16 RrPP 1/16 RrPp
¼ Rp 1/16 RRPp 1/16 RRpp 1/16 RrPp 1/16 Rrpp
¼ rP 1/16 RrPP 1/16 RrPp 1/16 rrPP 1/16 rrPp
¼ rp 1/16 RrPp 1/16 Rrpp 1/16 rrPp 1/16 rrpp
Genotypes of F2 : RRPP, RRPp, rrPP, rrPp RRpp, Rrpp rrpp

generation RrPP, RrPp
25
Phenotypes of F2 : Walnut comb Pea comb Rose comb Single comb
generation
Phenotypic ratio of : 9 3 3 1
F2 generation
Although the phenotypic ratio in the F2 generation is 9:3:3:1, this is not dihybrid inheritance because two
genes (P/p and R/r) control a single characteristic (shape of combs in chickens).
(K) POLYGENIC INHERITANCE
Mendel studied characteristics that could be classified on an either-or basis, such as purple versus white
flower colour. But for many characteristics, such as human skin and height, an either-or classification is
impossible because the characteristics vary in the population along a continuum (in gradations). These
are called quantitative characteristics, and they show continuous variation. Quantitative variation
usually indicates polygenic inheritance, an additive effect of two or more genes on a single
characteristic (the converse of pleiotropy, where a single gene affects several phenotypic characteristics).
There is evidence, for instance, that height in humans is controlled by at least three separately inherited
genes – Aa, Bb and Cc. Assume that each “dominant” allele contributes two units of height while each
“recessive” allele contributes only one unit to the phenotype. The tallest individual will have the genotype
AABBCC (12 units) and the shortest individual, aabbcc (6 units). Heterozygotes for all three genes,
AaBbCc, will have a height of 9 units, exactly half-way between the extremes.
Table 6 shows the distribution of height of individuals of other genotypes. In reality, height in humans is
controlled by more than three genes. Moreover, environmental factors (e.g. nutrition, exercise, sleep) also
affect height in humans. Note that for quantitative characteristics, every allele (regardless of whether
“dominant” or “recessive”) contributes to the phenotype. When displayed as a graph, it is a normal
distribution curve.
Table 6 Polygenic inheritance: Punnett square to show the fusion of gametes produced by two AaBbCc
individuals.
Male ABC ABc AbC aBC Abc aBc abC abc
Female
ABC 12 11 11 11 10 10 10 9
ABc 11 10 10 10 9 9 9 8
AbC 11 10 10 10 9 9 9 8
aBC 11 10 10 10 9 9 9 8
Abc 10 9 9 9 8 8 8 7
aBc 10 9 9 9 8 8 8 7
abC 10 9 9 9 8 8 8 7
abc 9 8 8 8 7 7 7 6
(L) DIFFERENCES BETWEEN CONTINUOUS VARIATION AND DISCONTINUOUS VARIATION
26
There are distinct differences between continuous variation and discontinuous variation, and these are
given in Table 7.
Table 7 Differences between continuous variation and discontinuous variation.
Continuous variation Discontinuous variation
1 Characteristic shows a range of phenotypes, 1 Characteristic shows distinct phenotypic

e.g. height in humans, skin pigmentation in classes.
humans.
Examples include ABO blood group system
Phenotypes vary only marginally from one in humans, height of Mendel’s pea plant, coat
another. Entire population shows gradual colour in mice, and flower colour in sweet
change from one extreme to the other. pea.
Plotting the frequency distribution gives a bell-

shaped curve (normal distribution curve).
Most individuals in the population fall in the

middle of the range, with approximately equal
numbers showing the two extremes of the
characteristic.
2 Due to action of two or more genes 2 Due to the action of one or two genes.
(polygenes). Effects of polygenes are additive. Effects of individual genes can be observed.
Note that every allele (regardless of whether
“dominant” or “recessive”) contributes to the
phenotype. Effects of individual genes cannot
be observed.
3 The environment has a large effect on the 3 The environment has a small effect on the
phenotype. phenotype.
4 Mechanisms of inheritance investigated using 4 Mechanisms of inheritance investigated by

statistical methods. counting and determining phenotypic ratios of
offspring.
(M) CHI-SQUARED TEST
The chi-squared test (or X2 test) is used to determine if the observed numbers are significantly different
from the expected numbers. Imagine crossing two pea plants which are heterozygous at the same gene
locus (e.g. Tt x Tt). Now one can expect a phenotypic ratio of 3 tall plants to 1 short plant among the
offspring. Suppose you actually carry out the cross, classify the offspring and find a ratio of 40 tall plants
to 10 short plants. Now the question is, does the observed phenotypic ratio of 4:1 differ significantly from
the expected phenotypic ratio of 3:1?
The first step is to work out the expected numbers. In this case, one can expect three-quarters of the 50
offspring (i.e. 0.75 x 50 = 37.5) to be tall and one-quarter of them (i.e. 0.25 x 50 = 12.5) to be short.
Next, complete Table 8, which enables one to calculate the chi-squared value (or X2 value). The X2
value is given by the following formula.
X2 =  { (O-E)2 / E }
27
Table 8 Calculation of X2 value.
Tall plant Short plant

Observed (O) 40 10
Expected (E) 37.5 12.5
O-E 2.5 -2.5
(O-E)2 6.25 6.25
(O-E)2 / E 0.17 0.5
Sum of {(O-E)2 / E} 0.67
The X2 value is 0.67. The larger the X 2 value, the greater the chance that the observed numbers differ
significantly from the expected ones. To determine if the difference is significant, one must know the
number of classes of data to work out the degrees of freedom. For a X 2 test, the degrees of freedom is
one less than the number of classes of data. In this example, the number of classes of data is two (i.e. tall
and short plants) and therefore the degree of freedom is one. If the expected phenotypic ratio had been
1:2:1 (e.g. tall, intermediate and short plants), the number of classes of data would have been three, the
degrees of freedom would have been two, and the expected numbers would have been 12.5, 25 and
12.5.
By convention, statisticians like to be at least 95% certain before drawing any conclusions! If the X 2 value
is larger than the critical value shaded in Table 9, one can be at least 95% confident that the difference
between the observed and expected numbers is significant. The difference is said to be statistically
significant. In this example, the calculated X 2 value (0.67) is much smaller than the critical X 2 value (3.84)
for one degree of freedom. This means that the ratio of 40 tall plants to 10 short plants is not significantly
different from a ratio of 3:1.
Table 9 Table of X2 values.
Degrees Number X2
of of
freedom classes
1 2 0.016 0.46 1.64 2.71 3.84 6.64 10.83
2 3 0.21 1.39 3.22 4.61 5.99 9.21 13.82
3 4 0.58 2.37 4.64 6.25 7.82 11.34 16.27
4 5 1.06 3.36 5.99 7.78 9.49 13.28 18.47
Probability that 0.90 0.50 0.20 0.10 0.05 0.01 0.001
chance alone could (90%) (50%) (20%) (10%) (5%) (1%) (0.1%)
produce the
difference
(N) USING GENETIC DIAGRAMS TO SOLVE PROBLEMS

28
Example 1
Variety A of flax is resistant to the rust fungus disease caused by race 22 of Melampsora lini but is
susceptible to race 24. Variety B is susceptible to race 22 of the fungus but resistant to race 24. The F 1
hybrid of the two varieties (A x B) is resistant to both races of the fungus. In the F 2 generation, the number
of flax plants resistant and susceptible to the different races of the fungus is given in the table below.
Resistant to both Susceptible to both Resistant to race 22 Susceptible to race 22

races 22 and 24 races 22 and 24 but susceptible to race but resistant to race
24 24
128 plants 14 plants 39 plants 44 plants
Using appropriately chosen symbols for the alleles, state, with reasons, the genotypes of the two parental
varieties.
Answer
Since the F2 generation gives an approximate 9:3:3:1 ratio, the gene loci controlling the resistance to
races 22 and 24 are unlinked.
The 9:3:3:1 ratio in the F 2 generation also suggests that the F 1 generation is heterozygous at both gene
loci, and that both parents are pure-breeding.
The F1 generation is resistant to races 22 and 24 of the fungus. This suggests that the alleles for
resistance to races 22 and 24 are dominant to those for susceptibility to races 22 and 24, respectively.
R22 represents the allele for resistance to race 22.

r22 represents the allele for susceptibility to race 22.
R24 represents the allele for resistance to race 24.
r24 represents the allele for susceptibility to race 24.
Variety A is resistant to race 22 but susceptible to race 24, its genotype is therefore R 22R22r24r24.
Variety B is susceptible to race 22 but resistant to race 24, its genotype is therefore r 22r22R24R24.
Example 2
A homozygous white-flowered, long-stemmed tobacco plant, Nicotiana affinis, was crossed with a
homozygous pink-flowered, short-stemmed plant. The F 1 generation had white flowers and long stems.
When the F1 generation is backcrossed with the double recessive plant, the following progeny were
obtained:
51 white-flowered, long-stemmed plants

46 white-flowered, short-stemmed plants
49 pink-flowered, long-stemmed plants
44 pink-flowered, short-stemmed plants
(a) State, using suitable symbols,
(i) the genotype of the F1 generation
(ii) the genotypes of the four phenotypes in the progeny of the backcross.
white-flowered, long-stemmed
29
white-flowered, short-stemmed
pink-flowered, long-stemmed
pink-flowered, short-stemmed
(b) Do the results indicate that the genes for flower colour and stem length are linked? Give a
reason for your answer.
Answer
(a) (i) All individuals of the F 1 generation had white flowers and long stems. This suggests that the
alleles for white flower and long stem are dominant to those for pink flower and short stem,
respectively.

w represents the allele for pink flower.
L represents the allele for long stem.
l represents the allele for short stem.
The genotype of the F1 generation is WwLl.
(a) (ii) Phenotypes Genotypes
white-flowered, long-stemmed WwLl
white-flowered, short-stemmed Wwll
pink-flowered, long-stemmed wwLl
pink-flowered, short-stemmed wwll
(b) Backcrossing F1 generation with a double recessive plant is the same as test cross on the F 1
generation. The approximate phenotypic ratio of 1:1:1:1 in the backcross indicates that the
genes for flower colour and stem length are unlinked. Since the F 1 generation is heterozygous at
both gene loci, the alleles of both gene pairs segregate with independent assortment to give four
types of gametes in equal numbers. A double recessive individual produces only one type of
gamete. Therefore, backcrossing F1 generation with a double recessive plant gives a phenotypic
ratio of 1:1:1:1.
Example 3
A variety of oilseed rape shows variation in two characteristics: stem height and chlorophyll
distribution in its leaves. Plants may be tall or short. Chlorophyll distribution may be uniform,
producing normal green leaves; patchy, producing variegated leaves; or totally absent. Plants in which
chlorophyll is totally absent die before they emerge above ground as seedlings.
Pure breeding plants with tall stems and normal green leaves were crossed with plants with short
stems and variegated leaves. The generation from this cross consisted of plants with tall stems and
green leaves and plants with tall stems and variegated leaves in a ratio of 1:1.
(a) Using suitable symbols, construct a diagram of this cross to show the genotypes of the parents
and the offspring produced.
The first generation plants (Offspring 1) with tall stems and variegated leaves were self-pollinated and
1000 seeds sown. Six weeks after germination, the phenotypes of the second generation plants
(Offspring 2) were recorded. The following results were obtained;
30
Plants with tall stems and green leaves 190
Plants with tall stems and variegated leaves 386
Plants with short stems and green leaves 61
Plants with short stems and variegated leaves 126
(b) Construct a diagram to show the results of the self-pollination. Indicate the phenotypes of each
of the offspring generation and explain the results obtained.
Answer
(a) All individuals of the F1 generation have tall stems. This suggests that the allele for tall stem is
dominant to that for short stem.
The distribution of chlorophyll in leaves shows three phenotypes, with one of the phenotypes (patchy
distribution of chlorophyll) being intermediate between the other two (uniform distribution of
chlorophyll and total absence of chlorophyll). This suggests that distribution of chlorophyll is an
example of incomplete dominance, and that plants with variegated leaves are heterozygous at the
locus for chlorophyll distribution.
T represents the allele for tall stem.

t represents the allele for short stem.
G represents the allele for uniform distribution of chlorophyll (producing green leaves).
W represents the allele for absence of chlorophyll (producing white leaves).
Parental phenotypes : Tall stem, green leaf x Short stem, variegated leaf
Parental genotypes : TTGG ttGW
Gametes produced by parents : TG ½ tG ½ tW
Punnett square to show the fusion of gametes:
½ tG ½ tW
TG ½ TtGG ½ TtGW
Genotypes of F1 generation : ½ TtGG ½ TtGW
Phenotypes of F1 generation : Tall stem, green leaf Tall stem, variegated leaf
Phenotypic ratio of F1 generation : 1 1
(b) The loci controlling stem height and distribution of chlorophyll are unlinked. The F 1 generation is also
heterozygous at both gene loci. Hence, the alleles of both gene pairs segregate with independent
assortment to give four types of gametes in equal numbers.
Selfing F1 : TtGW x TtGW

generation
Gametes : ¼ TG ¼ TW ¼ tG ¼ tW ¼ TG ¼ TW ¼ tG ¼ tW
produced by F1
generation
31
¼ TG ¼ TW ¼ tG ¼ tW
¼ TG 1/16 TTGG 1/16 TTGW 1/16 TtGG 1/16 TtGW
¼ TW 1/16 TTGW 1/16 TTWW 1/16 TtGW 1/16 TtWW
¼ tG 1/16 TtGG 1/16 TtGW 1/16 ttGG 1/16 ttGW
¼ tW 1/16 TtGW 1/16 TtWW 1/16 ttGW 1/16 ttWW
The genotypes and phenotypes of the F2 generation are as follows:
TTGW tall stem and variegated leaf about 2/16 of 1000 seeds sown 386 6
TtGW tall stem and variegated leaf about 4/16 of 1000 seeds sown
TTGG tall stem and green leaf about 1/16 of 1000 seeds sown 190 3
TtGG tall stem and green leaf about 2/16 of 1000 seeds sown
ttGW short stem and variegated leaf about 2/16 of 1000 seeds sown 126 2
ttGG short stem and green leaf about 1/16 of 1000 seeds sown 61 1
The phenotypic ratio of the F2 generation is not 9:3:3:1 but approximately 6:3:2:1. This is because
plants with the following genotypes and phenotypes die before they emerge above ground as
seedlings. These constitute about ¼ of the 1000 seeds sown.
TTWW tall stem, absence of chlorophyll in leaf 1/16 of 1000 seeds sown
TtWW tall stem, absence of chlorophyll in leaf 2/16 of 1000 seeds sown
ttWW short stem, absence of chlorophyll in leaf 1/16 of 1000 seeds sown
Example 4
A child whose parents are both blood group O must be of blood group O. Use a genetic diagram to
explain why.
Answer
Io represents the allele that produces neither type A nor type B antigen.
Parental phenotypes : Blood group O x Blood group O
Parental genotypes : IoIo Io Io
Gametes produced by parents : Io Io
Genotype of offspring : Io Io
Phenotype of offspring : All of blood group O
Individuals who are of blood group O carry only Io, therefore the child must be of blood group O.
Example 5
Consider what happens when two individuals, one is of blood group A and the other is of blood group O,
have children.
32
Answer

Io represents the allele that produces neither type A nor type B antigen.
(a) Parental phenotypes : Blood group A x Blood group O
Parental genotypes : IAIA Io Io
Gametes produced by parents : IA Io
Genotype of offspring : IAIo
Phenotype of offspring : All of blood group A
(b) Parental phenotypes : Blood group A x Blood group O
Parental genotypes : IAIo Io Io
Gametes produced by parents : ½ IA ½ Io Io
Genotypes of offspring : ½ I AIo ½ IoIo
Phenotypes of offspring : Blood group A Blood group O
The genotypes of the children depend on the genotype of the blood group A parent. If he or she is
homozygous with the genotype I AIA, the children can only have the genotype I AIo and be blood group
A. However, if the blood group A parent is heterozygous with the genotype I AIo, each child has a 50%
chance of being either blood group A or blood group O.
Example 6
Consider the phenotypes that can result when a couple with the genotypes I AIo and IBIo have children.
Answer

Parental genotypes : IAIo x IBIo
Gametes produced by parents : ½ IA ½ Io ½ IB ½ Io
½ IA ½ Io
½ IB ¼ IAIB ¼ IBIo
½ Io ¼ IAIo ¼ IoIo
33
Genotypes of offspring : ¼ IAIB ¼ IAIo ¼ I BIo ¼ I o Io
Phenotypes of offspring : AB A B O
Example 7
In Silene alba (White Campion), there are separate male and female plants. Male plants are XY and
female plants are XX.
In 1912, Baur described the first example of sex linkage in plants. He discovered an unusual form of
Silene alba with narrow leaves. It was found to be a male plant. Pollen from this plant was used to
fertilise a female plant with normal broad leaves, and all progeny, male and female, had normal broad
leaves. When these normal broad-leaved plants were cross-fertilised, they produced 167 plants with
broad leaves and 60 with narrow leaves.
When the narrow-leaved plants were grown to maturity all were male, while of the broad-leaved
plants, 56 were male and 111 were female.
(a) Draw a genetic diagram to explain both crosses.
(b) Explain why there were no female narrow-leaved plants.
(c) Suggest how a female narrow-leaved plant could be produced.
Answer
(a) XB represents the X chromosome with the allele for broad leaves.
Xb represents the X chromosome with the allele for narrow leaves.
Y represents the Y chromosome with neither alleles.
Parental phenotypes : Male plant with narrow x Female plant with broad
leaves leaves
Parental genotypes : XbY XBXB
Gametes produced by parents : ½ Xb ½ Y XB
Genotypes of F1 generation ½ XBXb ½ XBY
Phenotypes of F1 generation : Female plants with Male plants with

broad leaves broad leaves
Gametes produced by F1 : ½ XB ½ Xb ½ XB ½ Y
generation
Genotypes of F2 generation : ¼ XBXB ¼ XBXb ¼ XBY ¼ XbY
Phenotypes of F2 generation : Female plants with Male plants Male plants

broad leaves with broad with narrow
leaves leaves
Phenotypic ratio of F2 generation : 2 1 1
The ratio of broad-leaved plants to narrow-leaved plants is 3:1, which explains the ratio of
167:60. Of the broad-leaved plants, the ratio of female to male is 2:1, which explains the ratio of
111:56.
34
(b) The allele for broad leaves is dominant to the allele for narrow leaves. As the female parent was
homozygous for broad leaves (X BXB), all F1 plants were also broad-leaved (X BY and XBXb).
Since F1 males were of genotype XBY, all female F2 plants must have broad leaves.
(c) Cross heterozygous broad-leaved female plant (XBXb) with narrow-leaved male plant (XbY).
Example 8
Figure 10 shows one maize cob. The cob has been photographed from four views to show the eight
rows of dark and light grains.
(a) Count the numbers of dark and light grains on the cob and make a table to show your results
clearly. Find the ratio of the two types of grain. Show your working.
(b) The cob was produced from a cross between two heterozygous plants, and might be expected to
show a ratio of three dark grains to one light grain. Carry out a chi-squared (X 2) test to determine
whether the observed ratio you found for the cob in part (a) differs significantly from the expected
ratio.
(i) Calculate the expected numbers of grains, and complete the table.
Grains on cob Observed number (O) Expected number (E) Difference (O-E)
Dark
Light
(ii) Using the following formula, calculate the value of chi-squared. Show your working.
X2 =  { (O-E)2 / E }
(iii) Probability levels (P) corresponding to some values of X 2 are shown below. What does your
calculated value for X2 indicate in relation to the ratio of dark to light grains on the cob?
Explain your answer.
X2 0.004 2.71 3.84 6.63

Probability that chance alone 95 10 5 1
could produce the difference (%)
Answer
(a) Rows Number of dark grains Number of light grains

1 14 6
2 14 5
3 13 5
4 14 5
5 18 2
6 16 4
7 11 7
8 14 5
Total number of dark grains = 114

Total number of light grains = 39
Total number of grains = 153
Ratio of dark grains to light grains = 114 : 39 = 2.92 : 1
35
(b) (i) Grains on cob Observed number Expected number Difference (O-E)
(O) (E)
Dark 114 114.75 -0.75
Light 39 38.25 0.75
(ii) X2 =  { (O-E)2 / E }
X2 = 0.0049 + 0.0147
X2 = 0.0196
(iii) The calculated X2 value (0.0196) corresponds to a P value of about 95%. Therefore, there
is a probability of about 95% that the differences between the observed and expected
numbers are due to chance. The differences are therefore statistically insignificant
(differences are due to chance). This shows that the ratio of dark to light grains is 3:1, and
both parents are heterozygous at the gene locus for colour of grain.
36
(O) CAUSES OF GENETIC VARIATION
Genetic variation arises from gene mutation, chromosomal mutation, meiosis and random fusion of
gametes.
(O.I) GENE MUTATIONS
1 Gene mutation is defined as a change in the structure of DNA, which occurs at a single locus on a
chromosome. Gene mutations result in the formation of new alleles.
2 Gene mutations can be brought about by the following mechanisms:
a Deletion
This occurs when one or several nucleotides are removed from a sequence of nucleotides.
b Insertion
This occurs when one or several nucleotides are added to a sequence of nucleotides.
c Substitution
This occurs when a nucleotide is replaced by another.
d Inversion
This occurs when a sequence of nucleotides becomes separated from the allele. It rejoins at the
original position but inverted. The nucleotide sequence of this portion is therefore reversed.
(O.II) CHROMOSOMAL MUTATIONS
1 Chromosomal mutation is defined as a change in the structure of a chromosome (involving

several gene loci) or a change in the number of chromosomes.
2 Chromosomal mutations can be brought about by the following mechanisms:
a Deletion, inversion, translocation or duplication of several gene loci on a chromosome
• Deletion
Breaks occur at two points along the length of a chromosome, and the middle portion of
the chromosome falls out (Figure 11a).
• Duplication
A section of a chromosome replicates so that a set of gene loci is repeated (Figure 11b).
• Inversion
Breaks occur at two points along the length of a chromosome. The middle portion of the
chromosome falls out and rotates through 180o before rejoining (Figure 11c).
• Translocation
A section of a chromosome breaks off, and becomes attached to another chromosome
(Figure 11d).
b Non-disjunction
This refers to the failure of sister chromatids to separate during anaphase, the failure of
homologous chromosomes to separate during anaphase I or the failure of chromatids to
separate during anaphase II (Figure 12). Non-disjunction can occur on one, several or all the
chromosomes within a nucleus.
3 Chromosomal mutations can result in the following:
37
a Reshuffling of alleles on chromosome
This can be a result of deletion, inversion, translocation or duplication of several gene loci
on a chromosome.
b Aneuploidy and polyploidy
• Aneuploidy is the condition of the nucleus where there are one or several chromosomes
more than or less than the diploid number of chromosomes, e.g. 2n-2, 2n-1, 2n+1 and
2n+2. It can result from either non-disjunction of sister chromatids of one or several
chromosomes during anaphase or the fusion of a normal haploid gamete with a gamete
carrying (n-2), (n-1), (n+1) or (n+2) chromosomes. These abnormal gametes are formed
by non-disjunction of one or several pairs of homologous chromosomes during
anaphase I or non-disjunction of chromatids of one or several chromosomes during
anaphase II.
• Polyploidy is the condition of the nucleus where there are three or more times the
haploid number of chromosomes, e.g. 3n, 4n and 5n. It can result from either non-
disjunction of sister chromatids of all chromosomes during anaphase within a diploid
nucleus, thereby giving a tetraploid nucleus, the fusion of a diploid gamete with a normal
haploid gamete giving a triploid nucleus or the fusion of two diploid gametes giving a
tetraploid nucleus. The diploid gametes are formed by non-disjunction of all the
homologous pairs during anaphase I, or non-disjunction of chromatids of all the
chromosomes during anaphase II.
4 Chromosomal mutations play a less important role in evolution than gene mutations because
chromosomal mutations involve only the reshuffling of alleles that already exist in the gene pool.
5 An example of chromosomal mutation can be found in the case of Down’s syndrome, which is
due to an extra chromosome 21.
(O.III) DISTINGUISHING BETWEEN GENE MUTATIONS AND CHROMOSOMAL MUTATIONS
There are differences between gene mutations and chromosomal mutations. These are listed in Table 10.
Table 10 Distinguishing between gene mutations and chromosomal mutations
Features Gene mutations Chromosomal mutations

Definition A change in the structure of DNA which A change in the structure of a
occurs at a single locus on a chromosome chromosome (several gene loci are
affected) or a change in the number of
chromosomes
Mechanism Brought about by deletion, insertion, Brought about by:

substitution or inversion of one or several  deletion, inversion, translocation or
nucleotides duplication of several gene loci on a
chromosome
 non-disjunction
Result Give rise to new alleles Give rise to:

 reshuffling of alleles on a chromosome,
resulting in new genotypes
 aneuploidy and polyploidy
Frequency More frequent than chromosomal Less frequent than gene mutations
38
mutations because genes outnumber
chromosomes by several thousand to one
Evolutionary Play a more important role in evolution Play a less important role in evolution than
importance than chromosomal mutations because the gene mutations because chromosomal
acquisition of new alleles increases the mutations involve only the reshuffling of
gene pool for natural selection to operate alleles that already exist in the gene pool
Example Sickle-cell anaemia is due to substitution Down’s syndrome is due to an extra

of one nucleotide. chromosome 21.
(O.IV) OTHER SOURCES OF GENETIC VARIATION
1 Genetic variations can also arise from the following events during meiosis:
a Crossing over of non-sister chromatids of homologous chromosomes during prophase I.
b Independent arrangement and separation of homologous chromosomes during metaphase I

and anaphase I, respectively.
c Independent arrangement and separation of chromatids during metaphase II and anaphase II,
respectively.
2 Genetic variation can also arise from the random fusion of gametes.
39
(P) EFFECTS OF ENVIRONMENT ON PHENOTYPE
The phenotype of a characteristic is basically determined by the genes controlling that particular
characteristic. However, the degree of expression of these genes may be influenced by the environment
in which the organism develops. For example, Mendel’s tall variety of garden pea normally reaches 180
cm. However, it would only do so if provided with adequate light, water and soil conditions. Decrease in
any of these factors would prevent the gene for height from exerting its full effect. Below are examples of
how environmental factors may affect phenotype.
Effects of light on phenotype
1 Several genes are responsible for freckling in humans but the extent of freckling is determined by
exposure to light.
2 Flowering in photoperiodic plants depends on the length of darkness.
3 The synthesis of chlorophyll in plants is genetically determined but light is also required.
Effects of diet on phenotype
1 Late-onset diabetes
This develops in genetically diabetic individuals who over-eat but not in genetically diabetic
individuals whose diet is low in sugars and lipids. The hormone insulin is secreted when blood
glucose level increases. Over-eating of sugary foods for a long period of time causes repeated
stimulation of the pancreas, which responds by secreting high levels of insulin. However, repeated
exposure of target cells to large amounts of insulin desensitises the cells’ responsiveness to insulin.
This may result in the target cells failing to dispose of glucose in the usual way, resulting in
diabetes.
2 Honey bees
(a) A bee colony consists of three types of individuals; drones, queen and workers. Drones are
males and they develop from unfertilised haploid eggs. In contrast, queen and workers are
females and they develop from fertilised diploid eggs.
(b) Although queen and workers have the same amount of genetic material, they are
phenotypically different. Not only are the workers sterile, they are also smaller in size and
have larger mouthparts and modified legs as compared to the queen.
(c) The phenotypic differences between the queen and workers are due to the diet of the larvae.
After hatching, all larvae are fed with royal jelly. On the third day, larvae destined to be
workers are switched to a diet consisting of honey and pollen, whereas those destined to be
queens continue with royal jelly. The high protein content of royal jelly stimulates the
formation and maturation of the female reproductive system.
Effects of temperature on phenotype
1 Vestigial wings in Drosophila
In Drosophila, the allele for vestigial wing is recessive to that for long wing. However, the
expression of vestigial wings is affected by the temperature at which the insect develops. The allele
for vestigial wing is expressed only at low temperatures. Drosophila that are homozygous recessive
for vestigial wing, will develop vestigial wings at 21C, intermediate wings at 26C, and long wings
at 31C.
40
2 Coat colour in Himalayan rabbits
Temperature affects the fur colour of Himalayan rabbits. A Himalayan rabbit has a white body with
black ears, nose, feet and tail. If the fur on the back is shaved and an ice-pack is fixed on the
rabbit’s back, left in position for weeks and kept cold, black hair begins to develop beneath the ice-
pack (Figure 13). This is because heat from the environment prevents the development of a black
pigment. Only in parts of the body that are cool enough, e.g. the extremities, does black fur grow.
41
(Q) SUMMARY
(Q.I) Using appropriate symbols to represent alleles
1 Complete dominance: Monohybrid inheritance & Dihybrid inheritance
- Always use a capital letter to represent a dominant allele, and a small letter to represent a
recessive allele.
- E.g. T represents the allele for tallness

t represents the allele for shortness.
2 Incomplete dominance & Co-dominance
- Use capital letters to represent both alleles of a gene.
- E.g. R represents the allele for red flower.

M represents the allele for the production of protein M.

N represents the allele for the production of protein N.
3 Multiple alleles
- The gene locus for the human ABO blood group system is conventionally represented by the
symbol I.
- E.g. IA represents the allele for the production of type A antigen.

4 Sex-linked characteristics
- E.g. XH represents X chromosome with allele for normal blood clotting.

Xh represents X chromosome with allele for haemophilia
Y represents Y chromosome with neither allele.
(Q.II) Show all working
Parental phenotypes:
Parental genotypes:
Gametes produced by parents: Circle gametes!
Do not use Punnett square for problems involving linked loci!
Genotype and phenotype of F1 generation:
For plants: Selfing F1 offspring to produce F2 generation

For animals: Sibling mating of F1 offspring to produce F2 generation
Gametes produced by F1 generation
42
Punnett square to show the fusion of gametes produced by F 1 generation
Genotypes of F2 generation:
Phenotypes of F2 generation:
Phenotypic ratio of F2 generation:
(Q.III) Identifying the problem
1 Monohybrid inheritance
- One characteristic is controlled by the alleles of one gene.
- Example: height in Mendel’s pea plant – either tall or short
- All the F1 offspring show the effect of the dominant allele.
- Test cross on F1 generation gives a phenotypic ratio of 1:1.
- F2 generation gives a phenotypic ratio of 3:1. Both are parental phenotypes.
2 Dihybrid inheritance
Two characteristics are controlled by the alleles of two genes.
a Unlinked loci
- Example: Colour of cotyledons in pea plant – either yellow or green

Texture of seed in pea plant – either round or wrinkled
- All the F1 offspring show the effects of both dominant alleles.
- Test cross on F1 generation gives a phenotypic ratio of 1:1:1:1.
- F2 generation gives a phenotypic ratio of 9:3:3:1.

• 9/16 of the F2 offspring show one parental phenotype.
• 1/16 of the F2 offspring show the other parental phenotype.
• 3/16 of the F2 offspring show one non-parental phenotype.
• 3/16 of the F2 offspring show another non-parental phenotype.
b Linked loci without crossing over
- Example: Size of wings in Drosophila – either long or vestigial

Width of abdomen in Drosophila – either broad or narrow
- All the F1 offspring show the effects of both dominant alleles.
- Test cross on F1 generation gives a phenotypic ratio of 1:1.
- F2 generation gives a phenotypic ratio of 3:1. Both are parental phenotypes.
43
c Linked loci with crossing over
- Example: Colour of body in Drosophila – grey or ebony

Shape of wings in Drosophila – straight or curled
- Test cross on F1 generation does not give a phenotypic ratio of 1:1:1:1.*
- F2 generation does not give a phenotypic ratio of 9:3:3:1.*
* Both the F2 generation and test cross on F1 generation show four phenotypic classes, two
of which are parental. The phenotypic ratio depends on the distance between the two
genes.
- Note that the dominant alleles of both genes may not be located on the same chromosome.
3 Incomplete dominance
- Example: Flower colour in snapdragon – either red, white, or pink
- All the F1 offspring show the same phenotype which is not seen in the parental generation.
- F2 generation gives a phenotypic ratio of 1:2:1.
4 Sex-linked characteristic
- Use reciprocal crosses to determine if characteristic is X-linked
- The following are seen in the F2 generation:
• Males and females are in roughly equal numbers in all crosses.

• The ratio of the number of individuals showing the effect of the dominant allele to the number
of individuals showing the effect of the recessive allele is different for various crosses.
5 Epistasis
- One characteristic is controlled by the alleles of two genes. Epistatic gene inhibits the hypostatic
gene.
- The type of epistasis (whether dominant or recessive epistasis) is revealed by certain ratios in
the F2 generation.
Recessive epistasis: 9:7 or 9:3:4

Dominant epistasis: 12:3:1 or 13:3
- Examples of epistasis:
• Flower colour in sweat pea – either white or purple
• Coat colour in mice – either white, black or brown
• Feather colour in chickens – either white or coloured
• Coat colour in cats – either white, black or brown
6 Collaboration
- Two different genes influencing the same characteristic interact to produce a phenotype that
neither could produce alone.
- Example: Shape of comb in fowls – either pea, rose, walnut, or single
44
Table 11 Summary of phenotypic ratios for different types of inheritance
Phenotypic ratios*
Type of inheritance
Test cross on F2 generation
F1 generation
1 Monohybrid inheritance 1:1 3:1
2 Dihybrid inheritance
a Unlinked loci 1:1:1:1 9:3:3:1
b Linked loci without crossing over 1:1 3:1
c Linked loci with crossing over w:x:y:z** p:q:r:s**
3 Incomplete dominance or co-dominance 1:2:1
4 Epistasis
a Recessive epistasis 9:7 or 9:3:4
b Dominant epistasis 12:3:1 or 13:3
5 Collaboration 9:3:3:1
* The phenotypic ratios are obtained if both parents are homozygous at the gene locus or loci in question
and show contrasting phenotypes.
** The phenotypic ratios will depend on the distance between the two gene loci. The offspring will show a
higher percentage of parental phenotypes than non-parental phenotypes.
45
Figure 1 Relationship between homologous chromosomes, gene loci and alleles.
46
Figure 2 The Law of segregation is related to the separation of homologous chromosomes during
meiosis I. The two alleles, A and a, are separated from each other during meiosis I. Half of the
gametes contain the allele A while the other half contains the allele a.
47
Figure 3 The Law of independent assortment is related to the independent arrangement and
separation of homologous chromosomes during metaphase I and anaphase I, respectively.
Figure 4 (a) The genes Aa and Bb are on the same pair of homologous chromosomes, i.e. they are
linked. (b) The genes Aa and Bb are on different pairs of homologous chromosomes, i.e. they are
unlinked.
48
Figure 5 (a) Chromosomes in male human. (b) Chromosomes in female human.
Figure 6 (a) Sex chromosomes in a female human. (b) Sex chromosomes in a male human.
49
Figure 7 Sex chromosomes are inherited in a normal Mendelian manner.
Figure 8 Pedigree chart.
50
Figure 9 The interaction of gene products, showing complementary gene action, in the metabolic pathway
producing a flower pigment in sweet peas. Functional enzymes encoded by both allele C and allele P are
essential for the development of purple flowers.
Gene C Gene P
encodes encodes
Enzyme E1 Enzyme E 2
X Y Z
(colourless) (colourless) (purple pigment)
Figure 10
51
Figure 11 Alterations of chromosome structure. Vertical arrows indicate breakage points. Dark purple
highlights the chromosomal parts affected by the rearrangements.
(a) A deletion removes a chromosomal segment.
(b) A duplication repeats a segment.
(c) An inversion reverses a segment within a chromosome.
(d) A translocation moves a segment from one chromosome to a non-homologous chromosome. In a
reciprocal translocation, the most common type, non-homologous chromosomes exchange fragments. In
a non-reciprocal translocation, which is less common, a chromosome transfers a fragment without
receiving a fragment in return.
(a)
(b)
(c)
(d)
52
Figure 12 Meiotic nondisjunction. Gametes with an abnormal chromosome number can arise by
nondisjunction in either meiosis I or meiosis II.
Figure 13 Temperature affects the coat colour of Himalayan rabbits.
53
Question 1
1 Method of Mendel’s experiments
(a) Pure-bred pea plants grown from round seeds with yellow cotyledons were crossed with pure-
bred pea plants grown from wrinkled seeds with green cotyledons.
(b) The above cross gave rise to the F 1 generation. The F1 plants were selfed to produce the F 2
generation.
2 Results of Mendel’s experiments
(a) All individuals of the F1 generation produced round seeds with yellow cotyledons.
(b) The F2 generation showed the following phenotypes:
9 produced round seeds with yellow cotyledons - parental phenotype

3 produced round seeds with green cotyledons - non-parental phenotype
3 produced wrinkled seeds with yellow cotyledons - non-parental phenotype
1 produced wrinkled seeds with green cotyledons - parental phenotype
3 Use a genetic diagram to explain the above results.
Question 2
1 Experiments and Results
(a) When pure-breeding Drosophila with ebony (black) body and curled wings were crossed with
pure-breeding Drosophila with grey body and straight wings, all the F 1 offspring showed grey
body and straight wings.
(b) Sibling mating of F1 offspring failed to give a phenotypic ratio of 9:3:3:1 or 3:1 in the F 2
generation.
(c) Test cross on the F1 offspring yielded the following results:
536 offspring with grey body and straight wings

481 offspring with ebony body and curled wings
101 offspring with grey body and curled wings
152 offspring with ebony body and straight wings
2 Use a genetic diagram to explain the above results.
54
Question 3
A variety of oilseed rape shows variation in two characteristics: stem height and chlorophyll distribution in
its leaves. Plants may be tall or short. Chlorophyll distribution may be uniform, producing normal green
leaves; patchy, producing variegated leaves; or totally absent. Plants in which chlorophyll is totally absent
die before they emerge above ground as seedlings.
Pure breeding plants with tall stems and normal green leaves were crossed with plants with short stems
and variegated leaves. The generation from this cross consisted of plants with tall stems and green
leaves and plants with tall stems and variegated leaves in a ratio of 1:1.
(a) Using suitable symbols, construct a diagram of this cross to show the genotypes of the parents and
the offspring produced.
The first generation plants (Offspring 1) with tall stems and variegated leaves were self-pollinated and
1000 seeds sown. Six weeks after germination, the phenotypes of the second generation plants
(Offspring 2) were recorded. The following results were obtained;
Plants with tall stems and green leaves 190

Plants with tall stems and variegated leaves 386
Plants with short stems and green leaves 61
Plants with short stems and variegated leaves 126
(b) Construct a diagram to show the results of the self-pollination. Indicate the phenotypes of each of
the offspring generation and explain the results obtained.
Question 4
It is possible to obtain two different pure-breeding varieties of sweet pea, both of which have white
flowers. Their genotypes are CCpp and ccPP. When these two varieties are crossed, all the F 1 offspring
have purple flowers. Selfing the F1 offspring produces F2 offspring in the ratio of 9 purple to 7 white.
Use genetic diagram to explain the above results.
Genetic basis for flower color in sweet pea
C represents the allele for the functional enzyme E 1.

c represents the allele for the non-functional enzyme E1.
P represents the allele for the functional enzyme E2.
p represents the allele for the non-functional enzyme E 2.
The alleles C and P are dominant to the alleles c and p, respectively.
55

QCB 540 Genetic Basis For Variation

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GENETIC BASIS FOR VARIATION

(e) Use genetic diagrams to solve problems involving test crosses.

(i) Describe the causes of genetic variation in a population.

Gametes produced by parents : T t

Phenotype of offspring : tall

Gametes produced by parents : ½ T ½ t t

Phenotypes of offspring : tall short

Phenotypic ratio of offspring : 1 1

Characteristic and trait

(B) MONOHYBRID INHERITANCE

Method and Results for Mendel’s experiments

Genetic basis for Mendel’s experiments

T represents the allele for tallness.

Parental phenotypes : Tall x Short

Genotype and phenotype of F1 : Tt (All tall)

Gametes produced by F1 generation : ½ T ½ t ½ T ½ t

Punnett square to show the fusion of gametes produced by the F 1 generation:

Phenotypes of F2 generation : Tall Tall Short

Phenotypic ratio of F2 generation : 3 1

(C) DIHYBRID INHERITANCE

As a result of independent arrangement and separation of homologous chromosomes, the genotype

(C.I) DIHYBRID INHERITANCE OF UNLINKED LOCI

Method for Mendel’s experiments

Results for Mendel’s experiments

9 round seeds with yellow cotyledons - parental phenotype

Genetic basis for Mendel’s experiments

R represents the allele for round seed.

Parental phenotypes : Round seed, x Wrinkled seed,

Parental genotypes : RRYY rryy

Genotype and : RrYy

Selfing F1 generation : RrYy x RrYy

Segregation with Segregation with

Punnett square to show the fusion of gametes produced by the F 1 generation:

¼ RY 1/16 RRYY 1/16 RRYy 1/16 RrYY 1/16 RrYy

¼ Ry 1/16 RRYy 1/16 RRyy 1/16 RrYy 1/16 Rryy

¼ rY 1/16 RrYY 1/16 RrYy 1/16 rrYY 1/16 rrYy

¼ ry 1/16 RrYy 1/16 Rryy 1/16 rrYy 1/16 rryy

Genotypes of F2 1 RRYY 2 Rryy 1 rrYY 1 rryy

Phenotypes of F2 Round seed, Round seed, Wrinkled seed, Wrinkled seed,

Test cross on F1 generation

Round seed with yellow cotyledon

(C.II) DIHYBRID INHERITANCE OF LINKED LOCI WITHOUT CROSSING OVER

Method and Results for Mendel’s experiments

Genetic basis for Mendel’s experiments

L represents the allele for long wing.

All the Drosophila had long-wings and broad abdomen.

Phenotypes of : Long wings, Long wings, Long wings, Vestigial

Genetic basis for test cross on F1 generation

Phenotypes of : Long wings, broad abdomen Vestigial wings, narrow abdomen

(C.III) DIHYBRID INHERITANCE OF LINKED LOCI WITH CROSSING OVER

Method and Results for experiments

536 offspring with grey body and straight wings

Genetic basis for experiments

G represents the allele for grey body.

Parental : Grey body, x Ebony body,

All the Drosophila had grey body and straight wings.

No crossing over Crossing over

Phenotypes Grey body, Ebony body, Grey body, Ebony body,

Number of 536 481 101 152

(D) INCOMPLETE DOMINANCE AND CO-DOMINANCE

An example of incomplete dominance occurs in snapdragon (Antirrhinum). Flower colour in snapdragon is

Method and Results for experiments