Genetic SL Test [100 marks]

A child has blood group A. The father of the child has blood group B. What are the possible genotypes of the mother? [1 mark]
1.
I. I AIA

II. I AIB

III. I Ai

A. I only

B. I and II only

C. II and III only

D. I, II and III

Markscheme
D

Examiners report
[N/A]

The micrographs show four different phases from meiosis II. What is the correct order? [1 mark]
2.

A. 3-4-2-1

B. 2-3-4-1

C. 4-3-2-1

D. 4-2-3-1

Markscheme
C

Examiners report
[N/A]
 During which phase of the first division of meiosis can non-disjunction take place and what structure is affected by the non- [1 mark]
3.
disjunction?

Markscheme
A

Examiners report
[N/A]

Cladograms can be created by comparing DNA or protein sequences. The cladogram on the left is based on DNA sequences and [1 mark]
4.
the cladogram on the right is based on comparing protein sequences.

What is the reason that cladograms based on DNA sequences are more reliable predictors of the phylogenetic relationship of species than
cladograms based on protein sequences?

A. Amino acids are not as chemically stable as DNA nucleotides.

B. DNA mutates but amino acids do not.

C. Several different triplets of bases can code for the same amino acid.

D. There are 20 different amino acids but only 4 nucleotides.

 Markscheme
C

Examiners report
[N/A]

5. What distinguishes an allele from a gene? [1 mark]

A. An allele is made of RNA.

B. An allele is shorter.

C. An allele is a variety of a gene.

D. An allele cannot be transferred during genetic modification.

Markscheme
C

Examiners report
[N/A]

6. Which is a characteristic of the pairs of sister chromatids that are visible during meiosis? [1 mark]

A. They result from the replication of DNA before meiosis.

B. They are only present in meiosis I.

C. They split apart during metaphase I in meiosis.

D. They are only present in meiosis II.

Markscheme
A

Examiners report
[N/A]
 Some breeds of dogs are characterized by the presence of a melanistic mask, which is a darkening of the fur near the nose, as [1 mark]
7.
shown by the arrow in this photograph.

Which outcome is matched with a valid conclusion if dogs that were pure breeding for melanistic masks were crossed with dogs without
melanistic masks?

A. If 0 % of the puppies have a mask, the character is recessive.

B. If 25 % of the puppies have a mask, the character is dominant.

C. If 75 % of the puppies have a mask, the character is dominant.

D. If 100 % of the puppies have a mask, the character is recessive.

Markscheme
A

Examiners report
[N/A]

8. The diagram shows a pedigree of cystic fibrosis, in which the black colour indicates the presence of cystic fibrosis. [1 mark]

What is the probability that the individual labelled X is a carrier of cystic fibrosis?

A. 1.00

B. 0.50

C. 0.25

D. 0.00

Markscheme
B

Examiners report
[N/A]
 The bacterium Neisseria gonorrhoeae causes infections related to the human reproductive system. The graph shows the [1 mark]
9.
percentage of samples in which this bacterium showed resistance to six antibiotics over a period of ten years.

What is a possible explanation for the total percentage resistance being larger than 100% in 2010?

A. People do not take the antibiotics as prescribed.

B. More people have been sampled in that year.

C. There was an epidemic of Neisseria gonorrhoeae in that year.

D. Some bacteria are resistant to more than one antibiotic.

Markscheme
D

Examiners report
[N/A]

10. What proves that the inheritance of the condition shown in this pedigree chart is autosomal recessive and not autosomal dominant? [1 mark]

A. There is no affected person in generation I.

B. Both males and females are affected.

C. Two unaffected parents have a child that is affected.

D. Not everybody in generation III is affected.

 Markscheme
C

Examiners report
[N/A]

11. A DNA profile was made of one individual in a paternity suit. Locus B was used to distinguish between this individual and other [1 mark]
individuals. The individual had two alleles of the gene at locus B which are shown below:

Gel electrophoresis was used to separate and visualize the alleles B3 and B5. The gel, with two bands of DNA, is shown below.

What DNA is in bands 1 and 2?

Markscheme
C

Examiners report
[N/A]
12. Which is a characteristic of the haploid number of eukaryotic chromosomes? [1 mark]

A. It doubles in mitosis.

B. It is fixed for each species.

C. It is an even number for all species.

D. It is positively correlated with an animal’s mass.

Markscheme
B

Examiners report
[N/A]

Which is a possible risk associated with a genetic modification of crops? [1 mark]

13.
A. Crop plants will become weaker with time.

B. It can increase mutations in the organisms that consume them.

C. Starch obtained from genetically modified plants will be more difficult to digest.

D. Resistance to herbicide genes can be transferred to weeds.

Markscheme
D

Examiners report
[N/A]

14. What is produced by somatic-cell nuclear transfer? [1 mark]

A. Adult sheep
B. Cloned embryos
C. Rooted stem-cuttings
D. Genetically modified food

Markscheme
B

Examiners report
[N/A]

15. The diploid number of chromosomes in humans (Homo sapiens) is 46 and the diploid number of chromosomes in rice ( Oryza sativa)[1 mark]
is 24. What does this indicate about diploid chromosome numbers?

A. Plant species have a lower diploid number of chromosomes than animals.

B. Members of a species have the same diploid number of chromosomes.
C. The evolutionary progress of species is determined by the diploid number of chromosomes.
D. The complexity of the organisms is correlated to the diploid number of chromosomes.
 Markscheme
B

Examiners report
[N/A]

What is the major health issue resulting from the Chernobyl nuclear accident in 1986? [1 mark]
16.
A. Coronary thrombosis
B. Cholera
C. Sex-linked diseases
D. Thyroid cancer

Markscheme
D

Examiners report
[N/A]

What description is matched with the correct phase in meiosis I? [1 mark]

17.

Markscheme
C

Examiners report
[N/A]

18. It is possible for two parents to have children with each of the four ABO blood groups. What blood groups would the parents have? [1 mark]
 Markscheme
D

Examiners report
This was the most successful question, as good candidates were able to find the parents that could give all blood groups. Weaker
candidates went for answer B.

Which technique separates proteins according to size? [1 mark]

19.
A. Treatment with restriction endonucleases
B. PCR
C. Gel electrophoresis
D. DNA profiling

Markscheme
C

Examiners report
Despite some complaints, this question was well answered by good candidates. In general, proteins are separated using a
polyacrylamide gel. The SDS-page method is one of the most popular in molecular biology procedures. In this case, proteins are
previously denatured. SDS molecules bind to unfolded proteins in large excess, providing extra negative charges to the molecules.
Therefore, upon SDS-treatment, the specific charge (the charge-to-mass ratio) of different proteins will become roughly identical.

20. What is characteristic of homologous chromosomes? [1 mark]

A. They have an identical DNA sequence.

B. They are of the same length in karyograms.
C. They form pairs in prokaryotes.
D. They carry the same alleles.

Markscheme
B

Examiners report
These were all very good discriminators.

What event occurs only in meiosis? [1 mark]

21.
A. Fusion of gametes to promote genetic variation
B. Random separation of chromatids
C. Random separation of homologous chromosomes
D. Replication of chromosomes

Markscheme
C
 Examiners report
These were all very good discriminators.

What is the effect of dominant alleles? [1 mark]

22.
I. They mask the effect of recessive alleles.
II. They become more frequent than recessive alleles in a population.
III. They have a joint effect with recessive alleles when characteristics are co-dominant.

A. I only
B. I and II only
C. I and III only
D. I, II and III

Markscheme
A

Examiners report
Although some teachers criticized this question, it is perfectly fair. Many candidates believed that dominant alleles have a joint effect
with recessive alleles in co-dominance.

23. Which sequence of DNA would be suitable in DNA profiling? [1 mark]

A. ---ATTCGTGAATCAGCC--
B. ---ATTCGTGAATTTGCC--
C. ---ATTCGTGATTGCAGC--
D. ---ATTCGTGATTCGTGA--

Markscheme
D

Examiners report
This question had the greatest number of G2 comments. Although teachers believed this was an unfair question, some candidates were
able to see the tandem repeats only present in answer D. This was the only answer with 7 base pair repeats (there can be between 2
and 60 base pair in a tandem repeat). It is agreed that it is possibly too short a sequence to easily see the repeats and that this could
have put off some good candidates.

In a person who is heterozygous for sickle-cell anemia, where is the mutation found? [1 mark]
24.
A. In every gamete produced

B. Only in gametes carrying an X chromosome

C. In all brain cells

D. In blood plasma

Markscheme
C
 Examiners report
This question proved to be too hard for all candidates. Most candidates answered that the mutation for sickle-cell anemia is found in
blood plasma. This is probably because they know anemia is related to blood, but failed to realize that plasma has no cells, therefore no
DNA (6.2.6 in guide). Many candidates also went for gametes with X chromosome; probably wrongly believing this is a sex-linked
disease. Others believed every gamete has the mutation, forgetting that gametes only have half the genetic information, so in a
heterozygous individual, not all gametes receive the mutation. All nucleated cells in the body (except half of the gametes) have the
mutation; therefore the only possible answer was brain cells.

25. What is the chromosome number in a human gamete with non-disjunction? [1 mark]

A. 46

B. 45

C. 24

D. 23

Markscheme
C

Examiners report
Although most good candidates answered this question well, some candidates had different number of chromosomes in a disjunction.
Unlike what happens in plants, the probability to have more than one chromosome suffering non-disjunction in humans is very low, let
alone the whole set of chromosomes.

26. In a human with type A blood, what determines the blood group? [1 mark]

A. Sex chromosomes

B. One or two alleles

C. Multiple alleles

D. Codominant alleles

Markscheme
B

Examiners report
Many candidates failed to read that the question was referring only to type A blood. In the guide, in section 4.3.3 it says: State that
some genes have more than two alleles (multiple alleles). We can say that multiple alleles refers to more than 2 alleles, therefore
answer C is incorrect.

A colour blind man and a woman carrier for colour blindness have a son. What is the probability that their son will be colour blind? [1 mark]
27.
A. 25 %

B. 50 %

C. 75 %

D. 100 %
 Markscheme
B

Examiners report
[N/A]

28. Laboratory analysis of DNA from a 40 000 year old woolly mammoth used the polymerase chain reaction (PCR). What role did the [1 mark]
PCR have in the analysis?

A. DNA denaturation

B. DNA comparison

C. DNA separation

D. DNA amplification

Markscheme
D

Examiners report
[N/A]

In a person who is heterozygous for sickle-cell anemia, where is the mutation found? [1 mark]
29.
A. In every gamete produced

B. Only in gametes carrying an X chromosome

C. In all brain cells

D. In blood plasma

Markscheme
C

Examiners report
This question proved to be too hard for all candidates. Most candidates answered that the mutation for sickle-cell anemia is found in
blood plasma. This is probably because they know anemia is related to blood, but failed to realize that plasma has no cells, therefore no
DNA (6.2.6 in guide). Many candidates also went for gametes with X chromosome; probably wrongly believing this is a sex-linked
disease. Others believed every gamete has the mutation, forgetting that gametes only have half the genetic information, so in a
heterozygous individual, not all gametes receive the mutation. All nucleated cells in the body (except half of the gametes) have the
mutation; therefore the only possible answer was brain cells.

What is the chromosome number in a human gamete with non-disjunction? [1 mark]

30.
A. 46

B. 45

C. 24

D. 23
 Markscheme
C

Examiners report
Although most good candidates answered this question well, some candidates had different number of chromosomes in a disjunction.
Unlike what happens in plants, the probability of having more than one chromosome suffering non-disjunction in humans in very low, let
alone the whole set of chromosomes.

31. In a human with type A blood, what determines the blood group? [1 mark]

A. Sex chromosomes

B. One or two alleles

C. Multiple alleles

D. Codominant alleles

Markscheme
B

Examiners report
Many candidates failed to read that the question was referring only to type A blood. In the guide, in section 4.3.3 it says: State that
some genes have more than two alleles (multiple alleles). We can say that multiple alleles refers to more than 2 alleles, therefore
answer C is incorrect.

How are enzymes used during gene transfer involving plasmids? [1 mark]
32.

Markscheme
A

Examiners report
Two answers have been accepted in this question. As stated in a G2, since no example is specified for gene transfer in the guide,
candidates could have studied examples that start with mRNA or from a gene in DNA. Since the former would not use enzymes to cut
DNA, candidates would choose D, whereas those who had studied a DNA example would choose A, so both answers A and D have
been considered as correct.

If a man with blood group O and a woman with blood group AB have children, which blood group(s) could the children have? [1 mark]
33.
A. Group O only
B. Groups A and B only
C. Group AB only
D. Groups O, A, B and AB
 Markscheme
B

Examiners report
[N/A]

Which individuals are colour blind in this Punnett grid? [1 mark]

34.

A. XB Y
B. XB XB
C. Xb Y
D. XB Xb

Markscheme
C

Examiners report
This was one of the easiest questions in the paper.

35. What is a possible source of the chromosomes used for pre-natal karyotype diagnosis? [1 mark]
A. The mother’s lymphocytes
B. The mother’s cheek cells
C. The cells from chorionic villi
D. The fetal hair root cells

Markscheme
C

Examiners report
[N/A]

What was an aim of genetic modification of organisms? [1 mark]

36.
A. To provide stem cells from embryos for medical use
B. To make crop plants resistant to herbicides
C. To provide sperm cells for in vitro fertilization (IVF)
D. To produce genetically identical sheep

Markscheme
B
 Examiners report
Although the resistance to pests is often referred to as an example of the use of genetic modification in plants, this was a very easy
question and most candidates chose plant resistance to herbicides.

What causes the presence of three chromosomes 21 in Down syndrome? [1 mark]

37.
A. Crossing over
B. Allele change
C. Non-disjunction
D. Gene mutation

Markscheme
C

Examiners report
In assessment statement 4.2.3 candidates are expected to study crossing over.

The feather colour of a certain breed of chicken is controlled by codominant alleles. A cross between a homozygous black-feathered [1 mark]
38.
chicken and a homozygous white-feathered chicken produces all speckled chickens. What phenotypic ratios would be expected from a cross
between two speckled chickens?
A. All speckled
B. 1 black feathers : 1 white feathers
C. Speckled, black feathers and white feathers in equal numbers
D. 1 black feathers : 2 speckled feathers : 1 white feathers

Markscheme
D

Examiners report
[N/A]

The presence of freckles is a characteristic controlled by a dominant gene. Two parents who are heterozygous for the characteristic [1 mark]
39.
have three children, all of whom have freckles. Which statement is true if they have a fourth child?
A. There is a 100 % chance that their next child will have freckles.
B. There is a 75 % chance that their next child will have freckles.
C. There is a 50 % chance that their next child will have freckles.
D. The next child will have no freckles as the ratio is 3 with freckles to 1 without freckles.

Markscheme
B

Examiners report
[N/A]
40. What maximum number of different genotypes and phenotypes are possible among the children of a mother with blood group A and [1 mark]
a father with blood group B?

Markscheme
C

Examiners report
[N/A]

Which process can be used to amplify small fragments of DNA? [1 mark]

41.
A. Gel electrophoresis
B. Polymerase chain reaction
C. DNA profiling
D. Electron microscopy

Markscheme
B

Examiners report
[N/A]

42. What is a definition of a clone? [1 mark]

A. A group of cells derived from a single parent cell

B. Differentiated cells that retain the capacity to divide
C. A fetus developed specifically for medical use
D. A group of cells that have lost the ability to differentiate

Markscheme
A

Examiners report
This was an easy question for most candidates.

What was an aim of genetic modification of organisms? [1 mark]

43.
A. To provide stem cells from embryos for medical use
B. To make crop plants resistant to herbicides
C. To provide sperm cells for in vitro fertilization (IVF)
D. To produce genetically identical sheep
 Markscheme
B

Examiners report
Although the resistance to pests is often referred to as an example of the use of genetic modification in plants, this was a very easy
question and most candidates chose plant resistance to herbicides.

What is a characteristic of the human Y chromosome? [1 mark]

44.
A. It is made of DNA and histones covered by phospholipids.
B. It contains some genes that are not present on the X chromosome.
C. It is the largest chromosome in the human karyotype.
D. It has a condensed length of approximately 100 µm.

Markscheme
B

Examiners report
Although the fact that Y-chromosomes contain genes not present in the X chromosome is not part of the guide, in 4.3.5 and 4.3.6
candidates are expected to explain how the sex chromosomes determine sex, therefore they should be able to answer the question
correctly. All the other answers are obviously wrong, so could easily be discarded.

What is the composition of eukaryotic chromosomes? [1 mark]

45.
A. DNA only
B. DNA and ribose
C. DNA and RNA
D. DNA and proteins

Markscheme
D

Examiners report
The genetics questions were well answered by the vast majority of candidates.
 What is the difference between dominant, recessive and codominant alleles? [1 mark]
46.

Markscheme
C

Examiners report
The genetics questions were well answered by the vast majority of candidates.

47. Which genotypes are possible when a male with blood group AB and a female with blood group O have offspring? [1 mark]
A. IAi only
B. IAi and IBi
C. IAi and ii
D. IAi, IBi and ii

Markscheme
B

Examiners report
The genetics questions were well answered by the vast majority of candidates.

48. The following shows a pedigree chart. [1 mark]

What type of inheritance is shown in this pedigree chart?

A. X-linked recessive
B. Y-linked dominant
C. X-linked dominant
D. Y-linked recessive
 Markscheme
A

Examiners report
This question was a good discriminator with the majority of those getting this wrong incorrectly choosing D. Almost all were able to
determine that the type of inheritance was recessive but the weaker candidates were not able to see whether it was X- or Y-linked.

What happens to DNA fragments in electrophoresis? [1 mark]

49.
A. They move in a magnetic field and are separated according to their size.
B. They move in an electric field and are separated according to their size.
C. They move in a magnetic field and are separated according to their bases.
D. They move in an electric field and are separated according to their bases.

Markscheme
B

Examiners report
This question was a good discriminator with the majority of those getting this wrong incorrectly choosing D. Almost all understood that
fragments of DNA moved in an electric field (B and D) during electrophoresis but the weaker candidates did not know what was the
basis for their separation, which is size.

The flow chart summarizes methods of gene transfer. [1 mark]

50.

Which enzymes are used in steps I and II?

 Markscheme
B

Examiners report
This question on gene transfer was also a good discriminator as the stronger candidates correctly choose B, indicating that they knew
both enzymes involved in the steps indicated while the weaker candidates were split between C and D showing that they knew one, but
not both of the enzymes.

A body cell of a goat has 60 chromosomes. What would be produced following meiosis in the testis of a male goat? [1 mark]
51.
A. 2 cells each with 60 chromosomes
B. 4 cells each with 60 chromosomes
C. 2 cells each with 30 chromosomes
D. 4 cells each with 30 chromosomes

Markscheme
D

Examiners report
N/A

Which of the following involves meiosis? [1 mark]

52.
A. Tissue repair
B. Production of gametes
C. Asexual reproduction
D. Growth

Markscheme
B
 Examiners report
N/A

In guinea pigs black coat colour is dominant to white. In a test cross between a black and a white guinea pig both black and white [1 mark]
53.
offspring were produced. What percentage of the offspring would be expected to be white?

A. 75 %
B. 50 %
C. 33.3 %
D. 25 %

Markscheme
B

Examiners report
N/A

54. The image shows a human karyotype. [1 mark]

According to the image, what conditions can be determined?

A. Non-disjunction has occurred and the individual is male.

B. Non-disjunction has occurred and the individual is female.
C. The individual is female and has Down syndrome.
D. The individual is male and has Down syndrome.

Markscheme
A

Examiners report
N/A
 The diagram shows results of electrophoresis of DNA from a crime scene. [1 mark]
55.

Which suspect could be implicated as the criminal, according to the gel of DNA shown?

A. Suspect 1
B. Suspect 2
C. Suspect 3
D. Suspect 4

Markscheme
D

Examiners report
N/A

What term describes the failure of sister chromatids to separate during anaphase II? [1 mark]
56.
A. Sex linkage
B. Karyotyping
C. Non-disjunction
D. Semi-conservative replication

Markscheme
C

Examiners report
Questions 7, 8, 10, 11 and 12 also had relatively low discrimination indices because a high proportion of candidates answered them
correctly, indicating either good knowledge or that these questions proved to be rather too easy.
 What information can be concluded from the karyotype? [1 mark]
57.

A. The person is a normal male.

B. The person is a normal female.
C. The person is a male with Down syndrome.
D. The person is a female with Down syndrome.

Markscheme
C

Examiners report
Questions 7, 8, 10, 11 and 12 also had relatively low discrimination indices because a high proportion of candidates answered them
correctly, indicating either good knowledge or that these questions proved to be rather too easy.

In humans the ABO blood groups are an example of inheritance involving multiple alleles. In a family the parents have blood group A[1 mark]
58.
and blood group B respectively. Their first child has blood group O. What is the probability that their next child will have blood group B?

A. 100 %
B. 75 %
C. 50 %
D. 25 %

Markscheme
D

Examiners report
N/A
 Alkaptonuria is an inherited condition in humans that affects phenylalanine and tyrosine metabolism, resulting in the production of [1 mark]
59.
black-coloured urine. What deduction can be made about the allele for this condition from the pedigree chart?

A. It is autosomal dominant.
B. It is autosomal recessive.
C. It is X-linked recessive.
D. It is Y-linked recessive.

Markscheme
B

Examiners report
N/A

One type of gene mutation involves a base substitution. [1 mark]

60.

What are the consequences of the base substitutions in the two new sequences of DNA?

A. Both are mutations that would result in different polypeptides.

B. Sequence 2 would result in a changed polypeptide but sequence 1 would not.
C. All three DNA sequences would translate into the same polypeptide.
D. Only the original DNA and sequence 2 would translate into the same polypeptide.

Markscheme
D

Examiners report
This question caused concern from three teachers due to the ambiguity of the term "different" polypeptides, as in different with respect
to one another or different with respect to the original DNA sequence. In such cases of ambiguous interpretation, students should be
advised to read all possible answers. Choice D could then be recognized as unequivocally correct.
 Which genetic condition can be diagnosed by karyotyping? [1 mark]
61.
A. Trisomy 21
B. Sickle-cell anemia
C. Hemophilia
D. Colour blindness

Markscheme
A

Examiners report
N/A

The diagram shows a pedigree. [1 mark]

62.

According to the pedigree shown, which pattern of inheritance is indicated?

A. Sex-linked recessive trait

B. Autosomal recessive trait
C. Autosomal dominant trait
D. Codominant alleles

Markscheme
C

Examiners report
Three teachers expressed concern over this question suggesting that it is not possible to rule out codominance. Codominance would be
indicated as a third colour in the pedigree and all offspring of the first generation parents would need to be represented by the
intermediate phenotype.

If a father with A-type blood and a mother with B-type blood have a child, what is the probability that the child will have O-type [1 mark]
63.
blood?

A. 50 % chance if both parents have the recessive allele.

B. 25 % chance if both parents have the recessive allele.
C. 0 % chance because neither parent has the allele.
D. 50 % chance if either parent has the recessive allele.

Markscheme
B
 Examiners report
Two teachers expressed concern over this question arguing that both B and C could be correct. It is agreed that ruling out answer C is
based on the subtleties of language as the data does not support the statement that definitively neither parent has the allele. C would
only be correct if the statement said "if neither parent has the allele".

What is the name given to a heritable factor which controls a specific characteristic? [1 mark]
64.
A. Allele
B. Chromosome
C. Gene
D. Mutation

Markscheme
C

Examiners report
N/A

65. What would be the expected result if a woman carrier for colour blindness and a colour blind man had many children? [1 mark]

A. All offspring will be colour blind.

B. All male offspring will be colour blind and all females normal.
C. All males will be normal and all females will be colour blind.
D. All females will be carriers of colour blindness or colour blind

Markscheme
D

Examiners report
This question had a very good discrimination index and did not prove to be too hard for candidates, who seem to perform well at this
type of simple sex-linked cross.

66. In peas, tall is dominant to dwarf. In a cross between a dwarf plant and a heterozygous tall plant what percentage of the offspring [1 mark]
will be dwarf?

A. 0 %
B. 25 %
C. 50 %
D. 100 %

Markscheme
C

Examiners report
Here is another example of a well-answered question, showing that monohybrid crosses seem well studied by candidates.
 What commonly causes Down syndrome in humans? [1 mark]
67.
A. Non-disjunction
B. Base substitution
C. Amniocentesis
D. Gene mutation

Markscheme
A

Examiners report
N/A

When genes are transferred between species, the amino acid sequence of the polypeptide translated from them is unchanged. Why [1 mark]
68.
is this so?

A. All organisms use ribosomes for protein synthesis.

B. DNA replication is semi-conservative.
C. The enzymes used are substrate specific.
D. The genetic code is universal.

Markscheme
D

Examiners report
N/A

What stage of meiosis is shown in the micrograph? [1 mark]

69.

A. Prophase I
B. Metaphase II
C. Anaphase II
D. Telophase I

Markscheme
C
 Examiners report
More candidates than expected thought that the stage of meiosis shown was Telophase I. It could be identified as the second division of
meiosis because two dividing cells within one circular wall were visible. Several of the chromosomes were not yet at the poles so this
was late Anaphase II.

The sequence of the first six amino acids of the normal β hemoglobin (Hb A) chain are listed. [1 mark]
70.
valine – histidine – leucine – threonine – proline – glutamic acid

Which sequence of amino acids could there be in the first six amino acids of the sickle-cell β hemoglobin (Hb S) chain?

A. glutamic acid – histidine – leucine – threonine – proline – valine

B. valine – valine – histidine – leucine – threonine – proline
C. glutamic acid – histidine – leucine – threonine – proline – glutamic acid
D. valine – histidine – leucine – threonine – proline – valine

Markscheme
D

Examiners report
This question was perhaps not as fair as it could have been, as it did require candidates to remember difficult details about specific
amino acid sequences. However, it was the fourth most difficult question on the paper, and it did discriminate well.

71. If there are 16 chromosomes in a cell that is about to divide, what will be the number of chromosomes in a daughter cell after [1 mark]
division by mitosis or meiosis?

Markscheme
B

Examiners report
N/A

Which of his grandparents must be a carrier if none of them had the disease? [1 mark]
72.
A. Maternal grandmother (his mother’s mother)
B. Maternal grandfather (his mother’s father)
C. Paternal grandmother (his father’s mother)
D. Paternal grandfather (his father’s father)
 Markscheme
A

Examiners report
Three quarters of candidates gave the correct response of A. G2 feedback suggested that information about the man's parents should
have been given, but this in fact formed the basis of the question.

His wife does not carry the hemophilia allele. What would be expected in their children? [1 mark]
73.

Markscheme
A

Examiners report
N/A

What makes gene transfer between species possible? [1 mark]

74.
A. All species use the same genetic code.
B. All species have the same genetic material.
C. All species produce the same polypeptides.
D. All species transcribe genes using plasmids.

Markscheme
A

Examiners report
Comments on the G2 forms suggested that the question was poorly worded, and this may be a legitimate point. Many candidates picked
option B (same genetic material) rather than A (same genetic code), but it was felt that the word code is precise and often used too
loosely by students. It does have a different meaning to “material”.

What is a gene mutation? [1 mark]

75.
A. Failure of chromosome pairs to separate properly during cell division
B. Changes to genes caused by natural selection
C. Changes to the nucleotide sequence of the genetic material
D. Changes in karyotypes
 Markscheme
C

Examiners report
N/A

Which is a source of chromosomes for pre-natal diagnosis of abnormalities by karyotyping? [1 mark]

76.
A. Sperm
B. Ovaries
C. Erythrocytes
D. Chorionic villi

Markscheme
D

Examiners report
N/A

Which is a feature of sex-linked genes in humans? [1 mark]

77.
A. Males can only be heterozygous for the gene.
B. Females can only be homozygous for the gene.
C. Males can be either heterozygous or homozygous for the gene.
D. Females can be either heterozygous or homozygous for the gene.

Markscheme
D

Examiners report
Quite a few candidates picked option A instead of D, but this statement is invalid when dealing with sex-linked genes. The question had
a high discrimination index.

What is amplified using the polymerase chain reaction (PCR)? [1 mark]

78.
A. Large amounts of RNA
B. Small amounts of DNA
C. Small amounts of protein
D. Large amounts of polymers

Markscheme
B
 Examiners report
Quite a few candidates picked option A instead of D, but this statement is invalid when dealing with sex-linked genes. The question had
a high discrimination index.

What is a plasmid? [1 mark]

79.
A. Chloroplast DNA
B. Mitochondrial DNA
C. Small circle of DNA that can transfer genes to or from a prokaryote
D. The bacterial chromosome

Markscheme
C

Examiners report
N/A

The Punnett grid shows the inheritance of blood groups. [1 mark]

80.

What is the ratio of phenotypes of the offspring?

A. 1 : 1 ratio of blood groups A : B

B. 1 : 2 : 1 ratio of blood groups A : AB: B
C. 1 : 1 : 1 ratio of blood groups A : AB: B
D. 2 : 1 : 1 ratio of blood groups A : AB : B

Markscheme
D

Examiners report
N/A

The sequence of the first six amino acids of the normal β hemoglobin (Hb A) chain are listed. [1 mark]
81.
valine – histidine – leucine – threonine – proline – glutamic acid

Which sequence of amino acids could there be in the first six amino acids of the sickle-cell β hemoglobin (Hb S) chain?

A. glutamic acid – histidine – leucine – threonine – proline – valine

B. valine – valine – histidine – leucine – threonine – proline
C. glutamic acid – histidine – leucine – threonine – proline – glutamic acid
D. valine – histidine – leucine – threonine – proline – valine

Markscheme
D
 Examiners report
Question 11 was not popular with some teachers. Like question 7, it was felt to depend solely on a memorised fact, in this case the
specific mutation that causes sickle cell anemia. This knowledge is specified by the programme, so could have been expected, but
ideally answer C should have been slightly different so that it could have been eliminated using understanding.

What makes gene transfer between species possible? [1 mark]

82.
A. All species use the same genetic code.
B. All species have the same genetic material.
C. All species produce the same polypeptides.
D. All species transcribe genes using plasmids.

Markscheme
A

Examiners report
In question 12, answer B was chosen by an unexpectedly large number of candidates. Perhaps these candidates rejected answer A
because they misunderstood the term genetic code. This term is sometimes used to mean the base sequence of genes in a genome,
whereas the correct meaning is the correspondence between each of the 64 codons and the amino acids into which they are translated.

83. A certain breed of mouse can have fur that is either black or brown. A mouse breeder performs a test cross using a brown mouse to [1 mark]
determine the unknown genotype of a black mouse. There are four offspring produced by the cross. What conclusions can be drawn?

A. If the black mouse is homozygous, one of the four offspring must be brown.
B. If the black mouse is heterozygous, three of the four offspring must be black.
C. The black mouse must be homozygous if all four offspring are black.
D. The black mouse must be heterozygous if any of the offspring are brown.

Markscheme
D

Examiners report
Question 13 was the least effective on the paper in terms of discriminating between the candidates, which is unusual for a genetics
question. Teachers raised a variety of objections to it. The statistics suggest the problem was that some good candidates chose C
rather than D. To answer the question correctly it was first necessary to read the second sentence carefully and deduce from it that
brown mice are homozygous recessive because they were used in the test cross. Answers A and B could then easily be eliminated.
Answers C and D needed to be carefully considered. C should have been rejected because four offspring are too few to be sure that the
black mouse was homozygous. There is a one in sixteen chance of getting four black offspring from a cross between a heterozygous
black mouse and a homozygous brown recessive. On the other hand, answer D is undoubtedly correct. To cope with this type of
question, candidates need to understand the difference between the possible outcomes of a cross as shown in a Punnett square and
actual outcomes, which cannot be expected to correspond exactly with Mendelian ratios.

What is a gene mutation? [1 mark]

84.
A. Failure of chromosome pairs to separate properly during cell division
B. Changes to genes caused by natural selection
C. Changes to the nucleotide sequence of the genetic material
D. Changes in karyotypes
 Markscheme
C

Examiners report
N/A

What is meiosis? [1 mark]

85.
A. Division of a diploid nucleus to form diploid nuclei
B. Reduction division of a haploid nucleus to form diploid nuclei
C. Reduction division of a diploid nucleus to form haploid nuclei
D. Division of a haploid nucleus to form haploid nuclei

Markscheme
C

Examiners report
N/A

Which is a source of chromosomes for pre-natal diagnosis of abnormalities by karyotyping? [1 mark]

86.
A. Sperm
B. Ovaries
C. Erythrocytes
D. Chorionic villi

Markscheme
D

Examiners report
This was one of the best discriminators on the paper. 72% chose chorionic villi as the source of chromosomes for pre-natal diagnosis of
abnormalities. The most popular wrong answer was erythrocytes, which was perhaps surprising as many of these candidates will have
known that erythrocytes lack a nucleus.

What is a plasmid? [1 mark]

87.
A. Chloroplast DNA
B. Mitochondrial DNA
C. Small circle of DNA that can transfer genes to or from a prokaryote
D. The bacterial chromosome

Markscheme
C
 Examiners report
N/A

What causes genetic variety in the formation of gametes during meiosis? [1 mark]
88.
A. Crossing over in prophase I and random orientation of homologous chromosomes in metaphase I
B. Crossing over in metaphase I and random orientation of homologous chromosomes in metaphase II
C. Linkage of genes in prophase I and crossing over in metaphase I
D. Linkage of genes in metaphase I and random orientation of homologous chromosomes in metaphase II

Markscheme
A

Examiners report
N/A

Which statement is a definition of a gene? [1 mark]

89.
A. The whole of the genetic information of an organism
B. The factor that affects the phenotype in the homozygous state
C. A heritable factor that controls a specific characteristic
D. The factor that affects the phenotype in the heterozygous state

Markscheme
C

Examiners report
N/A

Which of the following statements relate(s) to Down syndrome (trisomy 21)? [1 mark]
90.
I. It can be detected in chorionic villus samples.
II. It results from non-disjunction in meiosis.
III. It is caused by gene mutation.

A. I and II only
B. I and III only
C. II only
D. III only

Markscheme
A

Examiners report
N/A
 During reproduction in flowering plants an embryo sac is produced, containing one haploid nucleus. This haploid nucleus divides by [1 mark]
91.
mitosis three times. What is produced?
A. One diploid nucleus
B. Four diploid nuclei
C. Four haploid nuclei
D. Eight haploid nuclei

Markscheme
D

Examiners report
Although some teachers complained about the testing on plant reproduction in this question, it turned out to be a very good
discriminator. There was no need to understand how a plant carries out mitosis, just the process of mitosis itself.

The blood groups of a mother and four children are indicated on the pedigree chart below. [1 mark]
92.

What are the possible blood groups of the father?

A. Group A only
B. Group A or B only
C. Group AB only
D. Group A, B or AB only

Markscheme
C

Examiners report
[N/A]

Boys can inherit the recessive allele (c) that causes red-green colour blindness from their mother, not from their father. The allele for [1 mark]
93.
normal red and green vision is C. Which of the following genotypes are possible in men?
A. c only
B. C or c only
C. CC or cc only
D. CC, Cc or cc only

Markscheme
B

Examiners report
The notation in this question was not the usual sex linked notation. It would have been difficult to write it in this way as this would have
made the question too easy. Nevertheless, the question turned out to be a good discriminator while still not proving too difficult.
 A small amount of a suspect’s DNA is obtained from a crime scene. What techniques would be used to carry out DNA profiling? [1 mark]
94.
A. Gel electrophoresis and paternity testing
B. Paternity testing and the polymerase chain reaction (PCR)
C. Polymerase chain reaction (PCR) and gel electrophoresis
D. Test crossing and pedigree analysis

Markscheme
C

Examiners report
[N/A]

The Human Genome Project allowed the first accurate estimates of the number of different genes in the human genome. What was [1 mark]
95.
a typical estimate, based on the results of the Human Genome Project?
A. 46
B. 64
C. 25 000
D. 1 000 000

Markscheme
C

Examiners report
Most candidates answered this question correctly. There were some complaints on the G2 reports submitted about the fact that there
are different quotes in different text books about the number of genes in the human genome. What most books state is that it was
originally believed there would be millions of genes and eventually only about 25 000 were discovered. All the other numbers in the
distractors were a long way from this number.

What type of enzyme could be used to cut a DNA molecule as indicated by the dotted line on the diagram below? [1 mark]
96.

A. DNA ligase
B. DNA polymerase
C. Helicase
D. Restriction enzyme

Markscheme
D

Examiners report
[N/A]
97. What does therapeutic cloning involve? [1 mark]

A. Developing genetically identical cultures of human cells for use in drug testing
B. Helping infertile couples to conceive by injecting the father’s sperm into the mother’s egg
C. Producing embryonic stem cells for medical use
D. Replacing a mutant allele in an embryo to prevent genetic disease

Markscheme
C

Examiners report
[N/A]

98. What is the set of alleles that an individual possesses? [1 mark]

A. A gene
B. A genotype
C. A genome
D. A genus

Markscheme
B

Examiners report
The wording of the stem in this question seemed confusing, as a set of alleles could have been interpreted as all of the alleles of an
organism and not just the pair of alleles. Nevertheless, the question turned out to have a good discrimination index.

Which phase of cell division is photographed in order to make a karyotype? [1 mark]

99.
A. Anaphase of mitosis
B. Anaphase I of meiosis
C. Metaphase of mitosis
D. Metaphase II of meiosis

Markscheme
C

Examiners report
Many candidates confused metaphase of mitosis with metaphase II of meiosis.

Which process is used in polymerase chain reaction (PCR)? [1 mark]

100.
A. Transcription
B. Translation
C. Replication
D. Mutation

Markscheme
C
 Examiners report
N/A

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