A2 Unit F215: Module 1

Control, genomes and environment

Module 1 Cellular control

Genetics

Gregor Mendel the Austrian monk who first investigated genetics of plant breeding.

A2 Unit F215: Module 1

Control, genomes and environment
Module 1 Genetics
Topic

(a) Explain the terms genotype, phenotype, dominant, recessive,

codominance and linkage.

(b) Use genetic diagrams to solve problems involving sex-linkage.

(c) Use genetic diagrams to solve problems involving codominance
(d) Describe the interactions between loci (epistasis)
(e) Predict phenotypic ratios in problems involving epistasis.
(f) Use predicted phenotypic ratios to solve problems involving epistasis.
(g) Use the chi-squared test to test the significance of the difference
between observed and expected results.
(h) Describe the differences between discontinuous and continuous
variation.
(i) Explain the basis of continuous and discontinuous variation with
reference to the number of genes that influence the variation.
(j) Explain that both genotype and environment contribute to
phenotypic variation and why variation is essential in selection.

Tick when
done

GENETIC TERMINOLOGY
GENE a length of ____ that codes for the production of a
___________ molecule.
GENETIC CODE

ALLELES different forms of one gene, e.g

LOCUS the position of a gene on a _______________ and on its
homologous partner.
GENOTYPE the 2 alleles which an organism possesses for a particular
gene, e.g. GG, Gg or gg. (From whom did the organism inherit each one?)
PHENOTYPE the expression of the genotype e.g. a person either has
cystic fibrosis or not.
DOMINANT only one of this allele needs to be present for the allele
to be ______________ in the p_________.
RECESSIVE two of these alleles need to be present for..
CODOMINANCE both alleles are equally expressed in the
__________ of a heterozygote.

So both C

(red pigment) and

C
(white pigment) are expressed if together in
a genotype. The phenotype will therefore be..
R

LINKAGE - 2 or more genes are located (linked) on the same

chromosome.
A

Matching Pairs
1. Gene

A The position of a gene on a chromosome.

2. Allele

B Each three bases code for one amino acid

and therefore the primary structure.

3. Genotype

C One form of a gene.

4. Phenotype

D This allele is expressed even if only one is

present in the genotype.

5. Locus

E Two identical alleles make up the genotype.

6. Codominant

F A length of DNA coding for one

polypeptide.

7. Genetic code

G Two different alleles make up the

genotype.

8. Dominant

H The 2 alleles for one gene found on a

homologous pair of chromosomes.

9. Recessive

I The expression of the genotype.

10. Heterozygous

J Both alleles in the genotype are fully

expressed.

11. Homozygous

K The genotype must only contain these

alleles if they are to be expressed.

Gregor Mendels Monohybrid Crosses

Mendels theories were difficult to accept by a scientific community who

knew nothing of chromosomes, genes and DNA, back in the latter half of the
nineteenth century. Today, however, they can be fully explained, if letters
are used to represent the alleles which code for the characteristics.
e.g. Investigating Tallness and dwarfness in pea plants.

Monohybrid crosses continued always draw a genetic diagram

Remember Two homozygous pure-bred parents produce heterozygous F1
offspring and members of the F1 crossed with each other produce an F2
generation.
1. Huntington s chorea is a fatal condition of the nervous system caused by a
dominant allele. Most sufferers do not show symptoms until over the age of
35. A man with the disease marries and has children in his late 20s. What is
the probability that one of his children will have inherited the condition?

2. A dog breeder has a Dalmatian bitch with black spots. Black allele is
dominant over brown. He mated the bitch with a brown spotted dog and
she had three black and one brown spotted puppies. What was her
genotype?

3. An F1 generation of geraniums all had red flowers. The F2 included some

with white flowers.
i)
ii)

Draw a genetic diagram to show how this was possible.

What ratio of red: white would be expected in the F2?

Using genetic diagrams to solve codominance problems (page 126)

Codominant alleles are both fully expressed in the phenotype and therefore
produce a third distinctive phenotype in the heterozygote individuals.
The alleles are always represented by:
i)

a large capital letter to represent the gene e.g. C for colour or H for
haemoglobin.

ii)

a small (but capital for dominant) letter to represent the allele

e.g. CW for white colour and CR for red colour.
HA for healthy haemoglobin and HS for sickle haemoglobin.

1. Three phenotypes are found in blue-bell colour; blue, lilac and white.
a) What kind of inheritance is this likely to be?
b) Write out the letters to represent the alleles.
c) Write out the genotype coding for each phenotype.
d) If 2 lilac parents are self-pollinated, what is the probability of
producing lilac offspring? (show diagram)

e) If a blue and lilac parent are crossed, what is the probability of

producing lilac offspring?

2. A budgie fancier bred homozygous dark blue with homozygous light blue
birds and obtained all mid-blue offspring.
He needed more mid-blue, so bred the F1 together. Explain with a
genetic diagram whether he did the best thing to produce maximum
numbers of mid-blue.

Now answer the questions 1 and 2 on page 127

Sickle cell Anaemia codominant at the cellular level (Page 126)

1. Which substitution has occurred in

the beta chain of haemoglobin?

2. An increase of acidity and

deoxygenation causes the mutated
haemoglobin to

3. Explain the symptoms of severe pain

and lack of normal growth as a child.

**Stretch and Challenge page 127

4. What are the possible genotypes and phenotypes of offspring of

parents:
i)
both heterozygous for the disease?
ii)
one heterozygous and one homozygous healthy?

Sex - linkage
Sex in mammals is inherited via a large X and a small Y chromosome. There is
little room on the Y for any genes other than that for being male. Y however
is dominant to X, so only one Y is needed to be male. However, linked to the X
are many genes vital for successful life. If mutations occur to any of these
genes then these mutations are carried through to the next generation on
the X chromosome.

The example above is the inheritance of haemophilia, a condition that

prevents normal blood clotting. H is the allele for healthy clotting factors,
but h codes for the mutation see power point and page 124/125 in the text
book. Answer questions 1, 2 and 3 page 125.

Further Questions
1. Explain why a man with haemophilia can not pass it on to his son.

2. The family tree shows the occurrence of a genetic condition called

brachydactyly (short fingers). Use the tree to deduce:
a) whether the allele is dominant or recessive
b) if the condition is sex linked.
Explain your answers

3. One of the genes for coat colour in cats is found on the X chromosome, but
not the Y. The allele CO gives orange fur, while CB gives black. The two alleles
are codominant, and when both are present the cat has patches of orange and
black known as tortoiseshell.
a) Explain why male cats can not be tortoiseshell.

b) Draw a genetic diagram to show the expected genotypes and phenotypes of

the offspring from a cross between an orange male and a tortoiseshell female
cat.

Autosomal linkage (page 123)

Two genes both on the same chromosome tend to be inherited together and
are therefore said to be linked. They usually do not show independent
assortment at metaphase 1 or 2.
An example in humans is the inheritance of the gene locus for ABO blood
groups and the gene locus for nail patella syndrome (NPS) which causes short
nails and poorly formed knee bones.
The loci are very close together on the chromosomes as seen in the diagram.

The following would therefore be expected to result when blood group and
the syndrome are inherited together.

What still might rarely happen during prophase 1, which may allow
independent assortment of these alleles?

A worked example is on page 123.

Epistasis how one gene may control the expression of another.

Page 128 key definition =

Does epistasis reduce or increase phenotypic variation?

Quite often two or more different genes affect the same phenotype
(characteristic).
Here is an example where one gene complements another they work
together.

Working antagonistically (against one another)

The homozygous presence of a recessive allele (epistatic allele) may prevent
the expression of another allele at a second locus (hypostatic allele).
Note the example of recessive epistasis as seen in the flower colour of
Salvia.

Another example is human eye colour where a gene for brown melanin production is
required before genes for how many layers of melanin are to be laid down can be
expressed.

Now note an example of dominant epistasis.

Note and learn the three typical epistatic ratios and answer questions 1 4,
page 129.

Now carefully read page 132 about inheritance of combs in domestic chickens
and coat colour in mice and then answer the questions 1 7 (page 133) in your
own notes.
Finally on this topic, try the stretch and challenge A, B and C questions.

Continuous and Discontinuous Variation (page 136)

These 2 types of variation were covered at AS.
Define and give examples of discontinuous variation.

Inheritance discontinuous is often inherited via one gene (monogenic e.g.

cystic fibrosis).
If two genes are involved then one is epistatic over the other. Explain.

In discontinuous variation:
Different alleles at a single gene locus..
Different gene loci.
Examples include.

Define and give examples of continuous variation

Inheritance - continuous is inherited via two or more genes. Each gene

provides an additional component to the phenotype.
Different alleles then combine to have a small effect on the phenotype.
If many genes are involves it is known as polygenic. See the example overleaf.

Now answer question

1 on page 137

Genotype and Environment contribute to the Phenotype

Can you think of any obvious examples and are they discontinuous or
continuous examples? Give detail.

Many of the traits required in agriculture are polygenic so the study of this
type of genetics is very useful for plant and farm animal breeders.
See power point examples and answer questions 1 3 page 137.