Homework 19.

1
Genetic technology

This question relates to Topics 19 and 16, and gives you an opportunity to carry out a genetic cross to
find a probability. It will also help you to revise protein structure and the relationship between genes
and protein synthesis.
1 a Sickle cell anaemia is due to the presence of a type of haemoglobin, referred to as
haemoglobin S. This is caused by a mutation in the  globin gene, resulting in a change
in the amino sequence of haemoglobin.
Find out about the nature of this mutation and how it affects the primary structure of
haemoglobin. [4]
b People with sickle cell anaemia are homozygous for the allele for haemoglobin S and have the
genotype HbSHbS.
People who are carriers for sickle cell anaemia have the genotype HbAHbS. HBA is the allele for
normal adult haemoglobin.
Use a genetic diagram to find the probability that two parents, who are both carriers for sickle cell
anaemia, could have a child with sickle cell anaemia. [4]
c Carriers for sickle cell anaemia can be identified using DNA analysis.
This involves the use of the restriction endonuclease Mst II and separation of the resulting DNA
fragments using gel electrophoresis.
i Explain what is meant by the term restriction endonuclease. [2]
ii Suggest how the restriction endonuclease Mst II produces DNA fragments of different
sizes with the HbA allele and the HbS allele. [4]
[Total: 14]

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