Questions
Q1.
Albinism is a genetic trait resulting from the inheritance of recessive alleles.
(a) (i) Distinguish between the terms allele and gene.
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(ii) Explain the meaning of the term recessive allele.
(1)
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... ...
(i) Naveeda is homozygous. Explain the meaning of the term homozygous. (1) ... ... ... ...
(ii) Susan is also homozygous. Name the members of this family who are definitely carriers of albinism, giving reasons for your answer.
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(c) Albinism occurs in a number of different animals, including squirrels as shown in the photograph below.
The incidence of albinism in squirrels is 1 in 100 000 births, which is much lower than the
incidence of albinism in humans. Suggest why the incidence of albinism in squirrels is lower than the incidence in humans, giving a reason for your answer.
(d) Individuals with albinism are unable to produce the pigment melanin. This can be due to the absence of the enzyme tyrosinase. The diagram below shows the role of tyrosinase in melanin production.
Explain why melanin cannot be produced in the absence of the enzyme tyrosinase.
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(Total for question = 12 marks)
Q2.
Cystic fibrosis is an inherited condition.
Explain why people with cystic fibrosis can have breathing difficulties.
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Q3.
The photograph below shows a cleft iris, a rare condition in humans. Cleft iris may be due to the inheritance of recessive alleles.
Explain the meaning of the term recessive allele.
(3)
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Q4.
Cystic fibrosis is an inherited condition.
Read through the following passage about cystic fibrosis then write on the dotted lines the most appropriate word or words to complete the sentences.
(4)
Cystic fibrosis is a disorder caused by one of a number of gene mutations.
The symptoms of the disorder are seen only in an individual who is
... for the recessive allele. The gene codes for
a ... protein called CFTR. This protein is responsible for the
movement of ... ions across the cell membranes. Cystic fibrosis
impairs the functions of the gaseous exchange, digestive and ...
systems in the body.
Q5.
The photograph below shows a cleft iris, a rare condition in humans. Cleft iris may be due to the inheritance of recessive alleles.
(i) In the space below, draw a genetic diagram to show the genotypes and phenotypes of a man with cleft iris and a woman who is heterozygous for this condition, and all their possible children.
(4)
(ii) State the probability that the first child of these parents will have a cleft iris.
...
Q6.
Cystic fibrosis can be detected using prenatal genetic testing.
(i) Describe how one named method of prenatal genetic testing can be carried
out. (3) ... ... ... ... ... ... ... ... ... ... ... ...
(ii) Explain either one ethical issue or one social issue relating to the use of
prenatal genetic testing.
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Q7.
Cystic fibrosis is a genetic disease that can affect many body systems, including the digestive system. In a carrier of this disorder, preimplantation genetic diagnosis can be used to detect the presence of an allele for cystic fibrosis.
*(a) Explain how cystic fibrosis affects the digestive system.
(4) ... ... ... ... ... ... ... ... ... ...
(b) Explain how preimplantation genetic diagnosis is performed to detect cystic fibrosis.
(c) Discuss either one ethical issue or one social issue relating to the use of preimplantation genetic diagnosis. (2) ... ... ... ... ... ...
(Total for question = 9 marks)
Q8.
Metachromatic leukodystrophy (MLD) is an inherited disorder. This disorder, due to brain damage during the first two years of life, can prevent a child learning how to walk and talk.
In one of the first gene therapy treatments approved in Europe, one child from each of three families with a history of MLD, was treated.
As a result of this treatment the children were able to talk at an age when some of their untreated brothers and sisters were unable to talk.
MLD is associated with a recessive allele.
(a) Two parents, who are physically unaffected by the disorder, have already had one child with the disorder.
Using a suitable genetic diagram, calculate the probability that the next child of these parents will also be affected by this disorder.
(4)
probability ...
(b) Suggest how a newborn baby could be tested for MLD before brain damage develops.
(2)
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(c) The gene therapy involved taking bone marrow stem cells from the child to be treated. A virus was then used to transfer DNA with the dominant allele into the stem cells. These modified stem cells were then injected into this child.
(i) Suggest how these modified stem cells can result in the prevention of MLD.
(3) ... ... ... ... ... ... ... ... ... ...
(ii) Suggest why the development of the treated children was compared with the development of their untreated brothers and sisters.
(d) There are some risks associated with somatic gene therapy.
Suggest why the parents of these children gave consent for their children to be involved in the gene therapy treatment for MLD.
(2)
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(Total for question = 13 marks)
Q9. (a) The diagram below shows part of a DNA molecule.
(1)
A Deoxyribose
B Phosphate
C Ribose
D Uracil
(ii) Place a cross in the box next to the molecule represented by the letter Y
(1)
A Adenine
B Cytosine
C Thymine
D Uracil
(iii) Place a cross in the box next to the name of the bonds holding the two strands of DNA together.
(1)
A Ester bonds
B Glycosidic bonds
C Hydrogen bonds
D Peptide bonds
(b) A culture of bacteria had its DNA labelled with the heavy isotope of nitrogen (15N).
The diagram below shows the position of the DNA band in the centrifuge tube when the DNA was
labelled with the heavy isotope of nitrogen, 15N.
The bacterial culture was then allowed to reproduce using nucleotides containing the normal
isotope of nitrogen (14N).
the bacteria have divided once.
(1)
(ii) Place a cross in the box below next to the tube showing the correct pattern of DNA after the bacteria have divided twice.
(1)
(c) Name the place in a eukaryotic cell where messenger RNA will be synthesised.
(1)
...
(d) Achondroplasia is an inherited condition that results in restricted growth in humans. This condition is caused by a dominant allele (A).
Fetuses which are homozygous for the allele for achondroplasia are rarely born alive.
Two parents who both have achondroplasia would like to have children. They are concerned about the risk of their child inheriting two dominant alleles and dying before birth.
(i) Describe one advantage and one disadvantage to these parents of genetic screening of their
fetus.
(2)
Advantage:
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Disadvantage:
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(ii) In the space below, draw a suitable genetic diagram to show the probability of a child from these parents growing up without achondroplasia.
(4)
probability ...
(Total for Question = 12 marks)
Mark Scheme
Q2.
Q4.
