G E N E T I C S-1

MODULE 3
MENDEL’S BASIC PRINCIPLES OF
INHERITANCE
 G E N E T I C S- I
LEARNING OUTCOMES
• State Mendel’s law of segregation and independent assortment.

• Predict the outcome of monohybrid, dihybrid and trihybrid crosses for

Mendel’s laws using the law of product probability and by application of the
Punnett Square and branched method.

• Explain the purpose of the test-cross and apply it to determine unknown

parental genotypes.

• Define the following key terms: gene, allele, locus, dominant, recessive,
homozygous, heterozygous, genotype, phenotype.

• Compare the behavior of chromosomes in meiosis with that of ‘Mendel’s

particles’.
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MENDEL’s Experiments
• Mendel (1822-1884) carried out several breeding experiments in
peas (Pisum sativum)- a self-fertilized crop plant.

• He investigated the inheritance patterns for a number of traits:

1. Flower Colour and Position
2. Seed Colour and Shape
3. Pod Colour and Shape
4. Stem Height.

• In his initial experiments the simplest approach was adopted

where the inheritance of one trait at a time was investigated.
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MONOHYBRID INHERITANCE (monohybrid cross- seed morphology)
• These involved crosses between two true-breeding strains that
differed in a single trait.

• All the offspring in the F1 generation were found to exhibit

uniformity as they exactly resembled only one of the parents.

NOTICE:

The offspring did

not show a blend of
the two parental
phenotypes
 G E N E T I C S-I
MONOHYBRID INHERITANCE (monohybrid cross)

• When the F1 plants were selfed,

some of the progeny in the F2
generation had the parental
phenotype that had disappeared
in the F1.

• Mendel concluded that the

alternative traits were
determined by particulate
factors.
NOTICE that the ratio of phenotypes in the F2
• These factors existed in pairs. was approximately 3:1.
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• Mendel’s first principle: Principle of
segregation: (anaphase-I and II)
• Paired determinants
• Separate and go into gametes at
equal frequency.

• The pair of determinants together =

a gene. E.g. SS, Ss, ss.

• Each parent has 2 forms (alleles) of the gene at the gene locus for
seed shape.

• Since they are both true breeding, the alleles are the same i.e.,
both parents are homozygous.
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• All the F1 offspring contain
one allele from each parent.

• Since these alleles are

different, the F1 progeny are
heterozygous .

• Only one allele (smooth seed)

is expressed due to
dominance.

• The wrinkled seed allele is

recessive (not expressed).
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• ‘Ss’ gives ‘½ S allele’ and
‘½ s allele’.

• Mendel’s principle of
segregation (1st law)
accounts for the
separation of alleles
during gametogenesis.

• This allows for the

apparent disappearance
of the wrinkled seed
shape in the F1 and its
reappearance in the F2.
NOTICE that the genotypic ratio in the F2 is 1:2:1.
G E N E T I C S-I

• Based on Mendel’s 1st law,

the relative frequencies of
genotypes and
phenotypes in the next
generation can therefore
be predicted using:

1. Punnett Square

2. Branch Diagrams
(Forked Method).
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DIHYBRID INHERITANCE (dihybrid cross)
• This involves crosses
between two individuals
that differ in two traits.

• Allele for smooth seed = S

(dominant) over allele for
wrinkled seed = s.

• Allele for yellow seed = Y

(dominant) over allele for
green seed = y.
• What will be the outcomes in the F1 and F2 in a cross between
the individuals in the diagram?
 G E N E T I C S-I
DIHYBRID INHERITANCE
• Principle of independent
assortment (2nd
principle): (anaphase-I)
• Different paired
determinants assort
independently.

• Which gametes ‘S’ or ‘s’

goes into has absolutely
no influence on which
gametes ‘Y’ or ‘y’ goes
into. Genes for different characters on
different chromosomes assort
independently of each other.
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DIHYBRID INHERITANCE

LAW OF PRODUCT PROBABILITY P(S) = ½

P(s) = ½
P(Y) = ½
P(y) = ½
The probability of
simultaneous occurrence of Gametes frequencies:
two independent events is
P(SY) = P(S) x P(Y) =
given by the product of their ½x½=¼
individual probabilities.
P(Sy) = ¼

P(sY) = ¼

P(sy) = ¼
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DIHYBRID INHERITANCE- Punnett Square method
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DIHYBRID INHERITANCE- Punnett Square method
SsYy x SsYy
Mendel’s 2nd law)
SY = Sy = sY = sy = ¼
Genotypic Frequencies
SY ¼ Sy ¼ sY ¼ sy ¼ SSYY = 1/16
SSyy = 1/16
SY ¼ SSYY SSYy SsYY SsYy ssYY = 1/16
ssyy = 1/16
Sy ¼ SSYy SSyy SsYy Ssyy SSYy = 2/16
SsYY = 2/16
sY ¼ SsYY SsYy ssYY ssYy Ssyy = 2/16
ssYy = 2/16
sy ¼ SsYy Ssyy ssYy ssyy SsYy = 4/16
 G E N E T I C S-I
DIHYBRID INHERITANCE- Punnett Square method

SsYy x SsYy

SY ¼ Sy ¼ sY ¼ sy ¼
Phenotypic frequencies
SY ¼ SSYY SSYy SsYY SsYy
SY = 9/16
Sy ¼ SSYy SSyy SsYy Ssyy Sy = 3/16
sY = 3/16
sY ¼ SsYY SsYy ssYY ssYy sy = 1/16

sy ¼ SsYy Ssyy ssYy ssyy

 G E N E T I C S-I
DIHYBRID INHERITANCE- Genotypic Frequencies/ Ratio using
Branched method

¼ BB = 1/16 AABB
Mendel’s
¼ AA 2/4 Bb = 2/16 AABb second law

¼ bb = 1/16 AAbb
Law of product
¼ BB = 2/16 AaBB
probability
2/4 Aa 2/4 Bb = 4/16 AaBb

¼ bb = 2/16 Aabb NOTE:

¼ BB = 1/16 aaBB Total = 16/16

¼ aa 2/4 Bb = 2/16 aaBb F2 Genotypic Ratio =

1:2:1:2:4:2:1:2:1
¼ bb = 1/16 aabb
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DIHYBRID INHERITANCE- Phenotypic Frequencies/ Ratio using
Branched method
SsYy x SsYy
Consider each trait individually:

Ss x Ss = ¾ Smooth : ¼ wrinkled Mendel’s

Yy x Yy = ¾ Yellow : ¼ green second law

¾ Yellow = Smooth, Yellow = 9/16

Law of product
¾ Smooth probability
¼ Green = Smooth, Green = 3/16
NOTE:
¾ Yellow = Wrinkled, Yellow = 3/16
F2 Phenotypic
¼ Wrinkled Ratio = 9:3:3:1
¼ Green = Wrinkled, Green = 1/16
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TRIHYBRID INHERITANCE (trihybrid cross)
• Crosses between two individuals that differ in three traits.

• Allele for smooth seed = S is dominant over the allele for

wrinkled seed = s.

• Allele for yellow seed = Y is dominant over allele for green seed =
y.

• Allele for purple flowers = P is dominant over allele for white

flowers = p.

• What will be the outcomes in the F1 and F2 in a cross between the

following individuals: SS YY PP X ss yy pp ?
 G E N E T I C S-1
P-generation: SS YY PP X ss yy pp

Gametes: SYP syp

F1 generation: Ss Yy Pp

Gametes from F1 generation (Ss Yy Pp):

P = SYP P = sYP
Y Y
p = SYp p = sYp
S s
P = SyP P = syP
y y
p = Syp p = syp

8 possible gametes = SYP, SYp, SyP, Syp, sYP, sYp, syP, syp
 TRIHYBRID INHERITANCE- ¼ BB
¼ CC = 1/64 AABBCC
2/4 Cc = 2/64 AABBCc (He)
Branched method ¼ cc = 1/64 AABBcc

Mendel’s second law and ¼ CC = 2/64 AABbCC (He)

¼ AA 2/4 Bb 2/4 Cc = 4/64 AABbCc (He)
Law of product probability ¼ cc = 2/64 AABbcc (He)
G E N E T I C S-I

¼ CC = 1/64 AAbbCC

1:2:1: 2:4:2:1:2:1:2:4:2:4:8:4:2:4:2:1:2:1:2:4:2:1:2:1
¼ bb 2/4 Cc = 2/64 AAbbCc (He)
¼ cc = 1/64 AAbbcc

¼ CC = 2/64 AaBBCC (He)

¼ BB 2/4 Cc = 4/64 AaBBCc (He)
¼ cc = 2/64 AaBBcc (He)

¼ CC = 4/64 AaBbCC (He)

2/4 Aa 2/4 Bb 2/4 Cc = 8/64 AaBbCc (He)
¼ cc = 4/64 AaBbcc (He)

¼ CC = 2/64 AabbCC (He)

¼ bb 2/4 Cc = 4/64 AabbCc (He)
¼ cc = 2/64 Aabbcc (He)

¼ CC = 1/64 aaBBCC
F2 Genotypic Ratio =
NOTE: Total = 64/64

¼ BB 2/4 Cc = 2/64 aaBBCc (He)

¼ cc = 1/64 aaBBcc

¼ CC = 2/64 aaBbCC (He)

¼ aa 2/4 Bb 2/4 Cc = 4/64 aaBbCc (He)
¼ cc = 2/64 aaBbcc (He)

¼ CC = 1/64 aabbCC
¼ bb 2/4 Cc = 2/64 aabbCc (He)
¼ cc = 1/64 aabbcc
 G E N E T I C S-I
TRIHYBRID INHERITANCE (branched method)
Predicting the F2 by branch method:
Ss x Ss = ¾ round : ¼ wrinkled.
Yy x Yy = ¾ yellow: ¼ green.
Pp x Pp = ¾ purple: ¼ white. Phenotypic
frequencies
¾ P = 27/64 SYP
¾ Yellow ¼ p = 9/64 SYp

27: 9: 9: 3: 9: 3: 3: 1
Phenotypic ratio is:
¾ Smooth ¾ P = 9/64 SyP
¼ Green
¼ p = 3/64 Syp
¾ P = 9/64 sYP
¾ Yellow
¼ Wrinkled ¼ p = 3/64 sYp
¾ P = 3/64 syP
¼ Green
¼ p = 1/64 syp
 G E N E T I C S-I

FOR MANY TRAITS:

No. of No. of No. in No. of No. of No. of

Genes Gametes Perfect Phenotypic Genotypic Heterozygote
population Classes Classes Classes
1 2 4 2 3 1

2 4 16 4 9 5

3 8 64 8 27 19

n 2n 4n 2n 3n 3n – 2n
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 Greater the gene differences between two varieties

greater the genetic variability and phenotypic variability
created in the F2

 Genotypes are always greater than or equal to

phenotypes for a given number of gene difference
(due to dominant alleles masking recessive alleles)

 Heterozygous individuals are greater than either set of

homozygous individuals in the F2
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TEST CROSS

• Homozygous dominant individuals (SS) and heterozygotes (Ss) have

the same phenotype.

• A test cross provides a means of distinguishing a homozygous

dominant individual from a heterozygote.

• To perform a test cross, the individual with unknown genotype

must be crossed with a homozygous recessive individual.

P: SS x ss P: Ss x ss
F1: Ss F1: ½ Ss, ½ ss

A monohybrid test cross giving a phenotypic ratio of 1:1 indicates a

heterozygous condition.
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TEST CROSS
• For dihybrid test crosses, a phenotypic ratio of 1:1:1:1 indicates a
heterozygous condition.

• A 1:1:1: 1 ratio in a dihybrid test cross also indicates that the

genes are independently assorting:
Ss Yy x ss yy:
SY Sy sY sy
sy SsYy Ssyy ssYy ssyy

Smooth Smooth Wrinkled Wrinkled

Yellow green yellow green
If the unknown genotype was homozygous dominant for both traits
then all the offspring would have the same phenotype!
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Parallelity between Mendel’s particles and the behaviour of

chromosomes during meiosis
• Invention of light microscopy in early 20th Century.

• Behavior of chromosomes paralleled that of Mendel’s particles.

• Each homologous pair of chromosomes separates from each

other and went into gametes at equal frequency.

• Different pairs assorted independently.

• Hence scientists at that time thought that: Chromosomes are

the units of inheritance.
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Some definitions:
Gene: snippet of DNA that
codes for a characteristic.

• Average size of a human

gene is 27,000 bp.

• Genes can be regarded as

switches in the cell circuitry.
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Some definitions:
Allele: alternate form of the same
gene.

• Alleles are formed by mutations.

• E.g. purple and white flower

colour.

Locus: the position on a

chromosome where a gene resides.

• One allele resides on each of the

homologous chromosomes.
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Some definitions:
Homozygous locus
• If the gene locus has the
same two alleles

Heterozygous locus
• If the gene locus has two
different alleles of the
gene.
 G E N E T I C S-1
Some definitions:

• The allele that expresses itself in the heterozygous

state is said to be dominant over the other allele.

• E.g. If RR = blue; rr = white and Rr = blue, then ‘R’

is the dominant allele.

• The allele that is masked is called recessive. In this

case, it is ‘r’.
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Some definitions:
Genotype
The allelic constitution of a gene locus
RR, Rr or rr

Phenotype
The external manifestation of the genotype
 G E N E T I C S-1
Central dogma of biology
Central dogma
How does the genotype
express itself into a
phenotype?

How does the

information in genes
flow to produce a
phenotype?
 G E N E T I C S-I
SUMMARY
• Monohybrid, dihybrid and trihybrid crosses involve an increasing number of character
differences between the parents.

• Greater the gene differences between the parents, greater the genetic and phenotypic
variability.

• Outcome of crosses can be predicted based on Mendel’s principles and probability theory.

• Two approaches to predicting the outcome of crosses

– Punnett square
– Branch method (Forked method)

• Test crosses provide a means of determining the genotype of individuals.