1.

2.

3.

4.

5.

What is always a difference between the alleles of a gene?

A.

Their position on the chromosome

B.

Their amino acid sequence

C.

The number of codons that each contains

D.

Their base sequence

What is a karyotype?
A.

Maternal and paternal autosomes arranged in pairs.

B.

Chromosomes arranged in pairs according to the number of their genes.

C.

Chromosomes arranged in pairs according to their size and shape.

D.

Chromosomes arranged in pairs according to their size.

Why is amniotic fluid collected during prenatal testing for abnormal chromosomes?
A.

To obtain uterine cells

B.

To obtain fetal cells

C.

To obtain dissolved chemical by-products of fetal development

D.

To replace it with fluid containing special growth hormones

What can be concluded on the basis of the following karyotype?

A.

Female with a normal set of chromosomes

B.

Male with Down syndrome

C.

Female with Down syndrome

D.

Male with a normal set of chromosomes

In what way are eukaryotic chromosomes different from prokaryotic chromosomes?

6.

7.

8.

9.

10.

Eukaryotic chromosomes

Prokaryotic chromosomes

A.

Protein is present

Protein is absent

B.

DNA is present

DNA is absent

C.

RNA is present

RNA is absent

D.

RNA is absent

RNA is present

Which processes result in the greatest amount of genetic variation in a population?

A.

Natural selection and meiosis

B.

Meiosis and mutation

C.

Mutation and mitosis

D.

Mitosis and natural selection

What is the relationship between Mendels law of segregation and meiosis?

A.

Only one of a pair of alleles appears in a gamete.

B.

The separation of paternal and maternal chromosomes shows no pattern.

C.

Gametes contain all dominant or all recessive alleles.

D.

Variation only results from two divisions.

Which fluid is sampled to try to detect chromosomal abnormalities in a fetus?

A.

Placental

B.

Umbilical

C.

Amniotic

D.

Spinal

What does a karyotype show?

A.

Gel electrophoresis bands from DNA

B.

The number and appearance of chromosomes

C.

A pair of alleles controlling a specific character

D.

All the genes possessed by a living organism

A diploid cell in a gorilla has 48 chromosomes. How many chromosomes will be present in a
haploid gorilla cell?
A.

96

B.

48

C.

24

D.

12

11.

12.

What are homologous chromosomes?

A.

Two chromosomes with differing sets of genes, in the same sequence, with the same
alleles

B.

Two chromosomes with the same set of genes, in a different sequence, with the same
alleles

C.

Two chromosomes with a different set of genes, in the same sequence, with different
alleles

D.

Two chromosomes with the same set of genes, in the same sequence, sometimes with
different alleles

The diagram below shows the cell of an organism going through the first division of meiosis.

How many different combinations are possible for these chromosomes in the haploid cells
formed by meiosis?

13.

A.

B.

C.

D.

If the amount of DNA in a haploid gamete is represented by , what is the net quantity of DNA
in a cell from the same organism at the start of meiosis?
A.

0.5

B.

C.

D.

14.

15.

Hemophilia is caused by an X-linked recessive allele. In the pedigree shown below which two
individuals in the pedigree must be carriers of hemophilia?

A.

I-1 and II-1

B.

I-4 and II-2

C.

II-1 and II-2

D.

III-2 and III-3

A single gene in humans causes blood to be either rhesus positive (dominant allele) or rhesus
negative (recessive allele). A woman with rhesus negative blood has already had a child with
rhesus positive blood. There could be complications during pregnancy if she has another child
with rhesus positive blood.
What is the probability of this, if the father is the same, and if his mother is known to have
rhesus negative blood?

16.

A.

25%

B.

50%

C.

75%

D.

100%

What is a sex-linked gene?

A.

A gene whose locus is on the X chromosome only.

B.

A gene whose locus is on the X or Y chromosomes.

C.

A gene whose locus is on the both X and Y chromosomes.

D.

A gene whose locus is on the Y chromosome only.

17.

Hypophosphataemia is a disorder involving poor re-absorption of phosphate from glomerular

filtrate in humans. It shows a sex-linked dominant pattern of inheritance as illustrated in the
following pedigree.

Which row in the table correctly identifies the genotypes of individuals 1 and 2?

18.

19.

Individual 1

Individual 2

X Y

A.

X X

B.

XY

X X

C.

XY

X X

D.

unaffected

affected

H H
H h

Which of the following represents a test cross to determine if phenotype T is homozygous or

heterozygous? (Note: allele T is dominant to allele t.)
A.

Phenotype T crossed with another phenotype T

B.

Phenotype T crossed with a phenotype T which is homozygous

C.

Phenotype T crossed with a phenotype T which is heterozygous

D.

Phenotype T crossed with phenotype t

Which of the following blood group phenotypes always has a homozygous genotype?
A.

B.

C.

AB

D.

20.

In the pedigree shown below, the female, labelled I-2, is a carrier for colour blindness, however
neither male (I-1 or II-1) is colour blind

What is the probability that offspring III-1 will be colour blind?

21.

22.

23.

A.

50%

B.

25%

C.

12.5%

D.

0%

A woman has a heterozygous genotype for blood group B. She is expecting a baby with a man
who is homozygous Group A. What are the possible blood groups for their baby?
I.

Group O

II.

Group A

III.

Group AB

A.

II and III only

B.

I and II only

C.

I and III only

D.

I, II and III

Which feature of a genetic pedigree chart demonstrates that a characteristic is sex linked?
A.

Numbers of offspring carrying the characteristic decreased over several generations.

B.

One gender is more commonly affected than the other.

C.

Equal numbers of males and females inherit the characteristic.

D.

Boys and girls only inherit the characteristic from their mothers.
H

What does the genotype X X indicate?

A.

A co-dominant female

B.

A heterozygous male

C.

A heterozygous female

D.

A co-dominant male
6

24.

If a purple flowered (Pp) and a white flowered pea plant (pp) are crossed, what will the
offspring be?

25.

A.

1 : 1 ratio of purple and white flowers

B.

3 : 1 ratio of purple to white flowers

C.

1 : 3 ratio of purple to white flowers

D.

All purple flowers

Hemophilia is sex-linked and is caused by a recessive allele. A womans father has hemophilia,
but her husband does not.
What is the probability of the women and her husband having a child with hemophilia?

26.

Probability of a son
having hemophilia

Probability of a daughter
having hemophilia

A.

50%

0%

B.

0%

0%

C.

100%

0%

D.

0%

50%

Brachydactyly, abnormal shortness of the fingers, was the first human genetic disorder found to
be caused by a dominant allele.
The pedigree below shows a family with affected males , unaffected males , affected females
and unaffected females .
I

II
III
IV
V
V I
V II
What are the genotypes of the father and mother in the first generation, using the symbol B for
the dominant alleles and symbol b for recessive allele?
A.

bb and BB

B.

bb and Bb

C.

Bb and BB

D.

BB or Bb and bb

27.

28.

29.

30.

31.

If a man has blood group O and a woman has blood group AB, what is the probability that their
child will be blood group O?
A.

0%

B.

25%

C.

50%

D.

100%

What are the possible applications of DNA profiling?

I.

Solving paternity suits

II.

Aiding certain criminal investigations

III.

Identifying people who died last century

A.

I only

B.

I and II only

C.

II and III only

D.

I, II and III

What happens to the unfertilized egg used in the cloning process of a differentiated cell?
A.

It becomes fertilized.

B.

Its nucleus is replaced by the nucleus of the differentiated cell.

C.

Its nucleus is fused with the nucleus of the differentiated cell.

D.

Its nucleus is exchanged with the nucleus of the sperm.

A tiny amount of DNA was obtained from a crime scene and amplified. Following digestion
with restriction enzymes, which laboratory technique would be used to separate the fragments
of DNA?
A.

Karyotyping

B.

Genetic screening

C.

Gel electrophoresis

D.

Polymerase chain reaction

What was the original goal of the Human Genome Project?

A.

To determine the function of genes

B.

To determine the nucleotide sequence of all human chromosomes

C.

To determine how genes control biological processes

D.

To understand the evolution of species

32.

What enzymes are used in gene transfer techniques?

33.

A.

Endonucleases and lipases

B.

Ligases and amylases

C.

Ligases and lipases

D.

Restriction enzymes and ligases

Which features of DNA fragments are used to separate them in the process of gel
electrophoresis?

34.

A.

Their charge and their size

B.

Their charge and base composition

C.

The sequence of their bases and their charge

D.

Their base composition and their size

There are many different views on the ethics of reproductive cloning in humans. Which is a
valid argument against cloning in humans?

35.

A.

It involves the use of donor sperm which is unethical.

B.

It happens naturally when identical twins are conceived.

C.

Only females can be cloned.

D.

The life expectancy of children produced by cloning might be lower than normal.

(a)

Define sex linkage.

.....................................................................................................................................

(b)

State one example of sex linkage.

.....................................................................................................................................

(c)

Draw a simple pedigree chart that clearly shows sex linkage in humans. Use conventional
symbols. Start with an affected woman and an unaffected man.
(4)
(Total 6 marks)

36. The diagram below shows the pedigree of a family with red green colour-blindness, a sex- linked
condition

K ey

1 s t g e n e ra tio n
1

n o rm a l m a le

n o rm a l fe m a le
m a le w ith c o n d itio n

2 n d g e n e ra tio n
1

f e m a le w ith c o n d itio n

3 r d g e n e r a tio n

(a)

Define the term sex-linkage.

.....................................................................................................................................
.....................................................................................................................................
(1)

(b)

Deduce, with a reason, whether the allele producing the condition is dominant or
recessive.
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(2)

(c)

(i)

Determine all the possible genotypes of the individual (2nd generation1) using
appropriate symbols.
...........................................................................................................................
(1)

(ii)

Determine all the possible genotypes of the individual (3rd generation4) using
appropriate symbols.
...........................................................................................................................
(1)
(Total 5 marks)

37.

(a)

Define the term co-dominance.

.....................................................................................................................................
.....................................................................................................................................
(1)

(b)

A man of blood type AB and a woman of blood type B are expecting a baby. The
womans mother had blood type O. Deduce the possible phenotypes of the offspring from
the cross shown below

P a re n t p h e n o ty p e s

A B

P a re n ts g e n o ty p e s
P a re n t g a m e te s

.F 1

g e n o ty p e s
p h e n o ty p e s

10

(4)
(Total 5 marks)

38.

(a)

Define the term sex linkage.

.....................................................................................................................................
.....................................................................................................................................
(1)

(b)

A male and female with normal colour vision each have a father who is colour blind.
They are planning to have children. Predict, showing your working, the possible
phenotypes and genotypes of male and female children.

K ey
m a le
fe m a le
a ffe c te d m a le
a ffe c te d fe m a le

.....................................................................................................................................
.....................................................................................................................................
(3)

(c)

Explain the relationship between Mendels law of segregation and meiosis.

.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(3)

(d)

Distinguish the differences between animal cells and plant cells undergoing mitosis and
cytokinesis.
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(2)
(Total 9 marks)

11

39.

(a)

Draw and label a simplified structure of a nucleotide.

(2)

A genetic cross was made between pure-breeding snapdragon plants with red flowers and purebreeding snapdragon plants with white flowers. The cross produced F 1 offspring that had only
pink flowers. When the F1 plants were self-pollinated, the resulting F2 generation had some red,
some white and some pink flowers.
(b)

(i)

Identify the relationship between the red and white alleles for flower colour.
..........................................................................................................................(1)

(ii)

Deduce the genotype of the F1 plants.

..........................................................................................................................(1)

(iii)

Construct a Punnett grid to show the cross between two F1 plants.

(2)

(iv)

Deduce the proportion of the different phenotypes of the F 2 offspring.

..........................................................................................................................
..........................................................................................................................(1)

(c)

Discuss two advantages of genetic screening.

....................................................................................................................................
....................................................................................................................................
....................................................................................................................................(2)
(Total 9 marks)

40.

The diagram below shows a DNA profiling of a family with five children. Segments of the
DNA inherited by some members of the family are shown as two dark bands in each column.
The DNA fragments are labelled A to F.
Son 1

Son 2

Son 3

Son 4

D a u g h te r

M o th e r

F a th e r

M a te rn a l
P a te rn a l
P a te rn a l
g ra n d m o th e r g ra n d fa th e r g ra n d m o th e r

A
B
C
D
E
F

(a)

State two properties of the fragmented pieces of DNA which allow them to be separated
in gel electrophoresis.
....................................................................................................................................
....................................................................................................................................
(1)

12

(b)

Determine which DNA fragment Son 2 inherited from his mother and which from his
father.
From his mother: ........................................................................................................
From his father: ..........................................................................................................
(1)

(c)

Identify the child that genetically most resembles one of the grandparents.
....................................................................................................................................
(1)

(d)

Apart from determining family relationships, outline one other application for DNA
profiling.
....................................................................................................................................
....................................................................................................................................
(1)
(Total 4 marks)

41.

(a)

State two procedures used for the preparation of a DNA profile.

.....................................................................................................................................
.....................................................................................................................................
(1)

The following part of a DNA profile was used as evidence in a criminal investigation. DNA
profiles of two suspects labelled S1 and S2 were compared to the DNA profile taken from the
scene of the crime labeled E.

(b)

Analyse the profiles to determine which suspect was present at the crime scene.
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(2)
(Total 3 marks)

13

42.

(a)

List two roles of testosterone in males.

1.

..........................................................................................................................

2.

..........................................................................................................................
(1)

(b)

A boy inherited red-green colour-blindness from one of his grandfathers. Deduce, giving
your reasons, which of his two grandfathers was also colour-blind.
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(3)
(Total 4 marks)

43.

(a)

Explain one use of reverse transcriptase in biotechnology.

.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
.....................................................................................................................................
(3)

(b)

List two commercial production processes that rely on the activity of Saccharomyces.
1. .................................................................................................................................
2. .................................................................................................................................
(2)
(Total 5 marks)

44.

Describe the consequence of a base substitution mutation with regards to sickle cell anaemia.
(Total 7 marks)

45.

Explain the use of two named enzymes in biotechnology.

(Total 8 marks)

46.

Outline the differences between the behaviour of the chromosomes in mitosis and meiosis.
(Total 5 marks)

47.

Sickle cell anemia is a serious disease caused by a single base substitution mutation. Explain
how a single base substitution mutation can have significant consequences for an individual.
(Total 6 marks)

48.

Outline a method for carrying out gene therapy, using a named example.
(Total 8 marks)

14

49.

Outline DNA profiling (genetic fingerprinting), including one way in which it has been used.
(Total 5 marks)

50.

Karyotyping involves arranging the chromosomes of an individual into pairs. Describe one
application of this process, including the way in which the chromosomes are obtained.
(Total 5 marks)

51.

Outline two examples of the commercial application of enzymes in biotechnology.

(Total 6 marks)

52.

Discuss the potential benefits and possible harmful effects of genetic modification.
(Total 7 marks)

53.

Up to two additional marks are available for the construction of your answers.
(2)

(a)

Outline how the process of meiosis can lead to Downs Syndrome.

(4)

(b)

Discuss the advantages and disadvantages of genetic screening for chromosomal and
genetic disorders.
(8)

(c)

Describe the technique for the transfer of the insulin gene using E. coli.
(6)
(Total 20 marks)

54.

Up to two additional marks are available for the construction of your answers.
(2)

(a)

Draw and label a generalized prokaryotic cell as seen under the electron microscope.
(4)

(b)

Outline the process of meiosis.

(6)

(c)

Explain the role of the following hormones in the menstrual cycle: estrogen,
progesterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH).
(8)
(Total 20 marks)

55.

Up to two additional marks are available for the construction of your answers.
(2)

(a)

Draw and label a simple diagram to show how DNA is constructed from sugars,
phosphates and bases.
(6)

(b)

Define the terms gene and gene mutation.

(4)

(c)

Genetic modification involves the transfer of DNA from one species to another. Discuss
the potential benefits and possible harmful effects of one example of genetic modification
in a named organism.
(8)
(Total 20 marks)

15

56.

Up to two additional marks are available for the construction of your answers.
(2)

(a)

Explain why enzymes are substrate specific and why their activity is affected by substrate
concentration.
(8)

(b)

Outline the use of restriction enzymes (endonucleases) and DNA ligase in gene
technology.
(6)

(c)

Outline the role of two enzymes found in the digestive system of humans.
(4)
(Total 20 marks)

57.

Up to two additional marks are available for the construction of your answers.
(2)

(a)

Draw and label a diagram of the molecular structure of DNA.

(4)

(b)

Explain the consequences of a base substitution mutation in relation to the processes of

transcription and translation.
(8)

(c)

Outline the evidence for evolution provided by homologous structures.

(6)
(Total 20 marks)

16