Homework marking scheme 19.

1
Genetic technology

Question Expected answer Mark

1 a This is an example of a point mutation, affecting just one base in the  globin gene. It is a
substitution mutation, in which the base adenine is substituted by the base thymine, altering the

codon from GAG to GTG.

GAG codes for the amino acid glutamic acid; GTG codes for the amino acid valine.
The primary structure of part of the  globin changes from:
Val–His–Leu–Thr–Pro–Glu–Glu–Lys–Ser
to:
Val–His–Leu–Thr–Pro–Val–Glu–Lys–Ser
Glutamic acid and valine have different properties so folding of the  globin molecules changes.
[4]
b Genotypes of parents:      HbAHbS    HbAHbS
Gametes:           HbA HbS   HbA HbS
Possible genotypes of children:  HbAHbA, HbAHbS, HbAHbS, HbSHbS
The probability of having a child with the genotype HbSHbS is therefore 0.25 (1 in 4). [4]
c i A restriction endonuclease is an enzyme that cuts DNA at a specific recognition site.
Restriction enzymes may make a staggered cut leaving sticky ends, or make a straight cut
leaving straight ends. [2]
ii The mutation in the HbS allele alters the recognition site for Mst II.
The sequence in the HbA allele (GAG) is cut by Mst II, but not the sequence in the HbS
allele (GTG).
After treatment with Mst II and separation using gel electrophoresis, the HbA allele
produces two small bands.
The HbS allele produces one larger band. This is illustrated in the diagram below.

[4]

Cambridge International AS and A Level Biology © Cambridge University Press 2014 1

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