Inheritance Paper 4

(a) Explain what is meant by the term gene mutation.

[2]

(b) Rickets is a childhood disorder involving the softening and weakening of bones. It is
usually caused by a lack of vitamin D, calcium ions or phosphate ions. A rare form of
rickets that cannot be successfully treated with vitamin D therapy is caused by a mutant
allele on the X chromosome.
Fig. 6.1 shows a pedigree chart for a family that has a history of this condition.

Using the symbols

XR for the mutant allele on the X chromosome
Xr for the non-mutant allele on the X chromosome
state the genotypes of the following individuals.
1
3
9
10

[4]

(c) The gene in which this mutation occurs codes for a protein found in the cells of the proximal
convoluted tubule of the kidney. This protein is involved in phosphate ion transport across
membranes.
Suggest why individuals with this mutant allele show symptoms of rickets. [2]

[Total: 8]

2 Canavan disease is a non sex-linked inherited condition that causes progressive damage to
neurones of the brain. Symptoms of the condition include a loss of motor skills and mental
retardation. The symptoms appear in early infancy and many children with this condition die by the
age of four years.
People with Canavan disease lack an enzyme called aspartoacylase which breaks down N-acetyl
aspartate. The build up of N-acetyl aspartate can interfere with the formation of the myelin sheath,
particularly in neurones of the brain.

(a) Enzymes such as aspartoacylase display specificity.

Outline what is meant by specificity of an enzyme.

[2]

(b) Complete the genetic diagram below to show how an unaffected man and an unaffected woman
could produce a child with Canavan disease.

(c) Explain the importance of the myelin sheath in the functioning of a neurone.
[3] [Total: 8]

3
Variable number tandem repeats (VNTRs) are repetitive, non-coding sections of DNA. A
particular VNTR is located at the same locus in different individuals, but the number of repeats in
that VNTR varies between individuals.
(a) Explain how, in the process of genetic fingerprinting, gel electrophoresis is able to distinguish
between the VNTRs that occur at the same loci of different individuals.
[3]
(b) Gel electrophoresis is also used in genetic screening.
The mutation of the -globin gene which gives rise to sickle cell anaemia removes a recognition site
of a restriction enzyme, R, as shown in Fig. 3.1. R cuts DNA at the sites indicated by arrows ( ). The
lengths of the resulting fragments are shown in kilobases (kb).

Fig. 3.2 shows an electrophoresis gel with a stained band of DNA from an individual who was
homozygous for the normal allele for -globin, HbA HbA. This band is the
1.1 kb fragment shown in Fig. 3.1. The 0.2 kb fragment is not shown.
Complete Fig. 3.2 by drawing the stained DNA that would result from an individual who is
heterozygous for the sickle cell allele, HbA HbS.
Put your answer on to Fig. 3.2.

[2]

(c) Describe the different circumstances in which this genetic screening for the sickle cell allele,
HbS, might be used.
[3] [Total: 8]
4
The fruit fly, Drosophila melanogaster, has many phenotypic variations and has been used in
experiments to demonstrate the principles of inheritance.
(a) The majority of fruit flies have red eyes but there is a variant with white eyes.
Fig. 7.1 shows the red-eyed and white-eyed variants of the fruit fly.

Fig. 7.1
The gene for eye colour is located on the X chromosome.
Using suitable symbols, draw a genetic diagram to show the possible offspring of a cross between a
heterozygous red-eyed female fruit fly with a white-eyed male fruit fly.

[5]

(b) One of the genes controlling the clotting of blood in humans is also located on the X
chromosome. A rare variation of the gene, a recessive allele for haemophilia, can lead to a condition
where the blood fails to clot properly.

(i) State why a man who has haemophilia is unable to pass the condition on to his son.
[1]
(ii)
Queen Victoria of Great Britain in the 19th century was a carrier of haemophilia, but did
not have the condition.
State the term used to describe the genotype of a carrier.
(iii)

[1]

Neither of Queen Victorias parents carried the allele for haemophilia.

Suggest how Queen Victoria could have become a carrier.

[1] [Total: 8]

5
Coat colour in cats is determined by a sex-linked gene with two alleles coding for black and orange.
When black cats are mated with orange cats:

the female offspring are always tortoiseshell (black and orange patches)

the male offspring are always the same colour as their mother.
(a) Explain what is meant by a sex-linked gene.

[2]

(b) Using the symbols B for the allele for black coat and O for the allele for orange coat, complete
the genetic diagram below.

[4]
(c) Explain why a male cat cannot have a tortoiseshell coat. [2] [Total: 8]

6
Occasionally during meiosis, homologous chromosomes fail to separate at anaphase. This is known
as non-disjunction. Turners syndrome is the most common chromosome mutation in human
females. It can occur due to non-disjunction in meiosis during gametogenesis. Some resulting
gametes will be missing an X chromosome.
Some forms of Turners syndrome occur when one of the pair of X chromosomes is not missing but
has become damaged. The damaged X chromosome may have been broken and re-formed so that
part of its structure is lost.
Fig. 7.1 is a diagram of a normal X chromosome and two forms of damaged X chromosomes, X1
and X2.

In X1, a section of the p arm of the chromosome is missing. This deletion leads to
reduced height of the female and abnormalities such as narrowing of the aorta.

In X2, a section of the q arm of the chromosome is missing. This deletion leads to little or
no development of the ovaries.

(a) Name structure K.

(b) Explain why X1 and X2 result in different phenotypes.

[1]
[2]

(c) Mothers with the X1 form of Turners syndrome can pass on the chromosome mutation to their
daughters but not to their sons.
Complete the genetic diagram below to show how the chromosome mutation X1 may be passed on
to daughters from a mother with Turners syndrome.

[4]
[Total: 7]
7 In humans a rare, sex-linked, recessive allele results in a change in the shape of the iris in the
eye. This condition is know as cleft iris (CI).
(a) Explain what is meant by the term sex linkage.

[2]

(b) Using suitable symbols complete the genetic diagram below.

(c) A woman who is heterozygous for CI becomes pregnant by a man with a normal iris.
State the probability that their child will have CI.

[1] [Total: 8]

8 Meiosis is a type of nuclear division, which produces gametes for sexual reproduction.
(a) Fig. 7.1 shows diagrams of the stages of meiosis, A to J, but they are not in the correct order.

Complete the table below by writing the stages of meiosis in the correct order.
Some of the stages have already been written in the table.

nuclear division

letter of stage
B

meiosis I

meiosis II

[4]
(b) Explain how meiosis can result in genetic variation amongst offspring.
[5] [Total: 9]
9 Huntingtons Disease (HD) is a severe neurological disorder in which symptoms usually appear
after the person has reached sexual maturity. Symptoms include memory loss and changes in
personality and mood.

HD is caused by a gene mutation on chromosome 4 in which the triplet code CAG is repeated many
times. The resulting allele is dominant.
(a) Explain what is meant by the terms gene mutation and triplet code.

[4]

(b) A couple wish to start a family. The man does not have HD but the woman does have the
disease. The womans father does not have the disease.
Complete the genetic diagram below to show the probability of the couples first child having HD.

[Total: 7]
10
(a) Explain what is meant by the term heterozygous genotype.
(b) The budgerigar, Melopsittacus undulatus, is a small type of parrot that is native to
Australia.
Fig. 7.1 shows a budgerigar.

Fig. 7.1

A budgerigar can have blue, green, yellow or white feathers.

[2]

Two genes, A/a and D/d, are involved in the inheritance of feather colour in budgerigars.

A bird which has at least one dominant allele A but is homozygous for d has blue feathers.
A bird which has at least one dominant allele D but is homozygous for a has yellow feathers.
A bird with at least one dominant A allele and one dominant D allele has green feathers.
A bird that is homozygous for a and d has white feathers.

Two green-feathered budgerigars, heterozygous at both gene loci, were crossed.

Draw a genetic diagram of this cross to show the probability of producing offspring with yellow
feathers.
[6] [Total: 8]
11
The ABO blood grouping system in humans is determined by a single gene with three alleles:
IA, IB and Io.
(a) Distinguish between the terms gene and allele.

[4]

(b) Fig. 7.1 shows a pedigree diagram of the inheritance of the ABO blood group system. The blood
group of some of the individuals is given in the pedigree.

Use the information in Fig. 7.1 and the genetic symbols IA, IB and Io, to complete the table.

[4] [Total: 8]

[Total: 8]

12

(a) Outline the behaviour of chromosomes during meiosis.

[9]

(b) Describe the ways by which gene mutations can occur.

[6] [Total: 15]

13
Tuberous Sclerosis Complex (TSC) is a genetic condition caused by a dominant allele of the TSC
gene, which leads to abnormal growth of tissue in organs such as the heart, lungs and kidneys.
Children with TSC can, with treatment, lead reasonably normal lives.
About 33% of people with TSC have at least one parent with the condition.
(a) Explain the meaning of the terms dominant and gene.

[2]

(b) A couple wish to start a family. The man does not have TSC but the woman does have
TSC. The womans father does not have the condition.
Complete the genetic diagram below to show the probability of the couples first child having TSC.

(c) Suggest how a person may develop TSC when there is no family history of the
condition.
[2] [Total: 7]
14 A group of plants, known as Rapid Cycling Brassicas (RCBs), has been developed for use in
schools and colleges for genetics experiments.
When RCB seedlings develop they can have either purple stems or non-purple stems. Their seed
leaves can be either green or yellow-green.
Purple stems and green seed leaves are controlled by dominant alleles.
The genes for stem colour and seed-leaf colour are located on separate chromosomes.
(a) Explain what is meant by a dominant allele.
allele .........................................................................................................................
dominant ............................................................................................................ [2]
(b) Draw a genetic diagram to show the likely outcome of a cross between two RCB plants which
are heterozygous for both stem colour and seed-leaf colour.

Use the symbols A / a for stem colour and B / b for seed leaf colour.
15 (a) Describe the first division of meiosis (meiosis I) in animal cells.

[6] [Total: 8]
[6]

(b) Discuss the link between the frequency of sickle cell anaemia and the number of cases
of malaria.
[9]

16
(a) Huntingtons disease (HD) is an inherited disease of the central nervous system. The
symptoms of HD usually develop in adulthood and include uncontrollable muscular
movements, short-term memory loss and changes in mood.
HD is caused by a dominant allele of the huntingtin gene on chromosome 4.
Explain what is meant by the terms allele and dominant.

[2]

(b) The dominant allele of the huntingtin gene contains many repeats of a triplet sequence
of nucleotides, CAG. The age at which symptoms of HD first appear is linked with the
number of CAG repeats.
This is shown in Fig. 1.1.

Fig. 1.1

Describe the pattern shown in Fig. 1.1.

[2]

(c) A blood test to detect the dominant allele is available for people at risk of HD.
Suggest why some people at risk of HD may decide not to take the blood test. [3]
[Total: 7]

17 Explain what is meant by a gene mutation and outline the possible consequences of a gene
mutation for an organism.
[9]
[Total 9]
18
Phenylketonuria (PKU) is a genetic disease which results in a raised concentration of the amino
acid phenylalanine in the blood. If left untreated in a newborn baby, it can lead to brain damage. For
this reason, babies may be tested for PKU soon after birth.
Usually, excess phenylalanine is converted to the amino acid tyrosine by the enzyme phenylalanine
hydroxylase (PAH). PKU can be the result of a recessive mutation of the gene coding for PAH.
(a) Explain what is meant by a recessive mutation.

[2]

(b) Using appropriate symbols, complete the diagram below to show how two parents who do not
have PKU can have children with, or without, PKU.

[3]
(c) PKU can be caused when a short length of the RNA produced during transcription of the gene
coding for PAH is lost.
Suggest what effect this would have on the protein that is subsequently produced. [3] [Total: 8]
19 (a) Explain how meiosis and fertilisation may result in genetic variation in offspring.

[7]

(b) Explain, using examples, how the environment may affect the phenotype of an organism. [8]
[Total: 15]

20

a) Explain how changes in the nucleotide sequence of DNA may affect the amino acid sequence in
a protein.
[8]
b) Explain how the allele for haemophilia may be passed from a man to his grandchildren
You may use genetic diagrams to support your answer.
[7] [Total 15]

21 In mice, fur colour is controlled by a gene with multiple alleles. These alleles are listed below in
no particular order.
black and tan = Cbt
agouti = Ca

yellow = Cy
black = Cb

(a) Suggest explanations for the results of the following crosses between mice.
(i) Mice with agouti fur crossed with mice with black fur may produce all agouti offspring or some
agouti and some black offspring.
[2]
(ii) Crosses between heterozygous parents with the genotype Cy Cb always produce a ratio of two
yellow mice to one black mouse.
[2]
(iii) Mice with yellow fur crossed with mice with black fur will produce one of the following outcomes:

some yellow offspring and some agouti offspring

some yellow offspring and some black and tan offspring
some yellow offspring and some black offspring.

[2]

(b) A test cross is used to determine the genotype of an organism.

Describe how you would carry out a test cross to determine the genotype of a black and tan mouse.
[2] [Total: 8]
22
A mutation in a gene in the fruit fly, Drosophila melanogaster, gives rise to white-eyed flies instead
of the normal red-eyed flies. The allele for red eyes (R) is dominant to the allele for white eyes (r).
A student crossed a red-eyed fly with a white-eyed fly.
The results are shown in Table 1.1.
Table 1.1
phenotype of fly

number of offspring

red-eyed female

54

red-eyed male

white-eyed female

white-eyed male

46

(a) In Drosophila, males possess two different sex chromosomes, X and Y, as in humans.

Complete the genetic diagram below to show how the results in Table 1.1 could have been
produced.

(b) (i)
The chi-squared (2) test can be used to analyse the results in Table 1.1.
The expected ratio of red-eyed females to white-eyed males is 1:1. Complete Table 1.2 and use this
to calculate a value for chi-squared (2).

= sum of
v = degrees of freedom
n = number of classes
O = observed value
E = expected value
Table 1.2

phenotype of fly

(OE)2
E

(OE)2

OE

red-eyed female
white-eyed male
2 = .................................................. [3]
(ii)
Use your calculated value of 2 and the table of probabilities below, to test the
significance of the difference between observed and expected results.
degrees of
freedom

probability
0.90

0.50

0.10

0.05

0.02

0.45

2.71

3.84

0.21

1.39

4.61

5.99
[2] [Total: 8]