2024 · Paper 3 · Question 5 · 10 marks
SaveName one type of SURF1 gene mutation and explain how this mutation could lead to production of a shorter polypeptide.
Type of mutation
Explanation
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
The frequency of LS is higher in the Faroe Islands than globally.
Suggest and explain one reason why.
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.