Q1.
Figure 1 shows the life cycle of a moss plant. In this life cycle, only the stalk and spore
capsule are diploid. All the cells in all the other stages of the life cycle of the moss are
haploid.
(a) Which letter, A, B, C or D, in Figure 1, shows where meiosis occurs in the life cycle
of the moss? Write the appropriate letter in the box provided.
(1)
(b) Explain how the chromosome number is halved during meiosis.
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(2)
(c) Figure 2 shows a cell from the moss plant.
The cell is in the second meiotic division.
What is the haploid number of chromosomes for this species of moss?
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(1)
(d) Crossing over greatly increases genetic diversity in this species of moss.
Describe the process of crossing over and explain how it increases genetic diversity.
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(4)
(Total 8 marks)
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Q2.
Two pairs of alleles A and a, and B and b are found on one pair of homologous
chromosomes. A person has the genotype AaBb. Figure 1 shows the chromosomes at an
early stage of meiosis. The position of two of the alleles is shown.
Figure 1
(a) Complete Figure 1 to show the alleles present at the other marked positions.
(1)
Crossing over occurs as shown in Figure 2.
Figure 2
(b) What term is used to describe the pair of homologous chromosomes shown in
Figure 2?
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(1)
(c) From Figure 2, give the genotypes of the gametes produced containing the
chromatids
(i) that have not crossed over;
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(ii) that have crossed over.
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(2)
(d) Give two processes, other than crossing over, which result in genetic variation.
Explain how each process contributes to genetic variation.
Process ____________________________________________________________
Explanation _________________________________________________________
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Process ____________________________________________________________
Explanation _________________________________________________________
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(4)
(Total 8 marks)
Q3.
Phenylketonuria is a disease caused by mutations of the gene coding for the enzyme
PAH. The table shows part of the DNA base sequence coding for PAH. It also shows a
mutation of this sequence which leads to the production of non-functioning PAH.
DNA base sequence coding for C A G T T C G C T A C G
PAH
DNA base sequence coding for C A G T T C C C T A C G
non-functioning PAH
(a) (i) What is the maximum number of amino acids for which this base sequence
could code?
(1)
(ii) Explain how this mutation leads to the formation of non-functioning PAH.
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(3)
PAH catalyses a reaction at the start of two enzyme-controlled pathways.
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The diagram shows these pathways.
(b) Use the information in the diagram to give two symptoms you might expect to be
visible in a person who produces non-functioning PAH.
1. _________________________________________________________________
2. _________________________________________________________________
(2)
(c) One mutation causing phenylketonuria was originally only found in one population in
central Asia. It is now found in many different populations across Asia. Suggest how
the spread of this mutation may have occurred.
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(1)
(Total 7 marks)
Q4.
(a) What name is used for the non-coding sections of a gene?
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(1)
Figure 1 shows a DNA base sequence. It also shows the effect of two mutations on this
base sequence. Figure 2 shows DNA triplets that code for different amino acids.
Figure 1
Original DNA base sequence A T T G G C G T G T C T
Amino acid sequence
Mutation 1 DNA base sequence A T T G G A G T G T C T
Mutation 2 DNA base sequence A T T G G C C T G T C T
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Figure 2
DNA triplets Amino acid
GGT, GGC, GGA, GGG Gly
GTT, GTA, GTG, GTC Val
ATC, ATT, ATA Ile
TCC, TCT, TCA, TCG Ser
CTC, CTT, CTA, CTG Leu
(b) Complete Figure 1 to show the sequence of amino acids coded for by the original
DNA base sequence.
(1)
(c) Some gene mutations affect the amino acid sequence. Some mutations do not.
Use the information from Figure 1 and Figure 2 to explain
(i) whether mutation 1 affects the amino acid sequence
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(2)
(ii) how mutation 2 could lead to the formation of a non-functional enzyme.
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(3)
(d) Gene mutations occur spontaneously.
(i) During which part of the cell cycle are gene mutations most likely to occur?
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(1)
(ii) Suggest an explanation for your answer.
Page 6 of 11
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(1)
(Total 9 marks)
Q5.
(a) The diagram shows a cell undergoing cell division.
Identify the type and stage of cell division shown. Give evidence from the diagram to
support your answer.
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(3)
(b) Describe how crossing over occurs during meiosis I.
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(2)
Page 7 of 11
(Total 5 marks)
Page 8 of 11
Mark schemes
Q1.
(a) D;
1
(b) 1. Homologous chromosomes (pair);
2. One of each (pair) goes to each (daughter) cell / to opposite poles;
Ignore descriptions of the second division of meiosis.
2
(c) 6;
1
(d) 1. Homologous pairs of chromosomes associate / form a bivalent;
2. Chiasma(ta) form;
3. (Equal) lengths of (non-sister) chromatids / alleles are exchanged;
4. Producing new combinations of alleles;
1. Accept descriptions of homologous pairs
2. Accept descriptions of chiasma(ta) e.g. chromatids /
chromosomes entangle / twist
2. Neutral Crossing / cross over
3. Reject genes are exchanged
3. Accept lengths of DNA are exchanged
4. Do not accept references to new combinations of
genes unless qualified by alleles
4
[8]
Q2.
(a)
A A a a
b b B B
1
(b) bivalent;
1
(c) (i) Ab, aB;
(ii) AB, ab;
2
(d) mutation;
different / new allele formed / genes deleted or duplicated / sequence
of genes changed (reject genetic information);
random fusion of gametes / fertilisation;
new combination of alleles;
independent assortment (of chromosomes) (accept random);
shuffling of maternal and paternal chromosomes / new combination
of alleles;
(ignore references to stages of meiosis)
any 2 × 2
4 max
[8]
Q3.
(a) (i) 4;
1
(ii) 1. Change in amino acid / (sequence of) amino acids / primary
structure;
1. Reject = different amino acids are 'formed'
2. Change in hydrogen / ionic / disulphide bonds alters tertiary
structure / active site (of enzyme);
2. Alters 3D structure on its own is not enough for this
marking point.
3. Substrate not complementary / cannot bind (to enzyme / active
site) / no enzyme- substrate complexes form;
3
(b) 1. Lack of skin pigment / pale / light skin / albino;
2. Lack of coordination / muscles action affected;
2 max
(c) Founder effect / colonies split off / migration / interbreeding;
Allow description of interbreeding e.g. reproduction between
individuals from different populations
1
[7]
Q4.
(a) Introns;
1
(b) Ile Gly Val Ser;
1
(c) (i) Has no effect / same amino acid (sequence) / same
primary structure;
Q Reject same amino acid formed or produced.
1
Glycine named as same amino acid;
1
It still codes for glycine = two marks.
(ii) Leu replaces Val / change in amino acid (sequence) / primary structure;
Change in hydrogen / ionic bonds which alters tertiary structure / active
site;
Q Different amino acid formed or produced negates first
marking point.
Substrate cannot bind / no longer complementary /
no enzyme-substrate complexes form;
Active site changed must be clear for third marking point but
does not need reference to shape.
3
(d) (i) Interphase / S / synthesis (phase);
1
(ii) DNA / gene replication / synthesis occurs / longest stage;
Allow ‘genetic information’ = DNA.
Allow ‘copied’ or ‘formed’ = replication / synthesis
1
[9]
Q5.
(a) (meiosis) anaphase I;
chromosomes are moving apart;
chromosomes still double structures;
3
(b) chromosomes in each (homologous) pair twist around each other;
chromatids break and rejoin to chromatid on sister chromosome;
(accept points from a suitable diagram)
2
[5]
