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2024 · Paper 3 · Question 5 · 10 marks

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5.1

Name one type of SURF1 gene mutation and explain how this mutation could lead to production of a shorter polypeptide.

Type of mutation

Explanation

2 marks
5.2

Globally, the frequency of LS is 1 in 40 000

In the Faroe Islands, which are 18 isolated islands, the frequency of LS is 1 in 1700

The population of the Faroe Islands is 49 053

Estimate the number of people in the Faroe Islands with LS caused by a mutation in the SURF1 gene.

Use information in this question and the information on page 12.

Give your answer to the nearest whole number.

Show your working.

Answer ______________ people

3 marks
5.3

The frequency of LS is higher in the Faroe Islands than globally.

Suggest and explain one reason why.

2 marks
5.4

LS usually causes death within the first three years of life.

Using all the information in this question, evaluate whether all people should be genetically screened for LS.

3 marks