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Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only)

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Question 5

Sena syndrome (SS) is a rare, recessive, inherited condition.

SS is caused by a mutation in any one of several genes involved in mitochondrial translation.

In 80%80\%80% of people with SS, these mutations occur in nuclear DNA. In 20%20\%20% of people with SS, these mutations occur in mitochondrial DNA (mtDNA).

12%12\%12% of the nuclear DNA mutations that cause SS occur in the MRPS16 gene. A mutated MRPS16 gene codes for a shorter polypeptide than a non-mutated MRPS16 gene.

a.

Name one type of MRPS16 gene mutation and explain how this mutation could lead to the production of a shorter polypeptide.

[2]
b.

Globally, the frequency of SS is 1 in 50,000. In a specific isolated island group, the population is 54,000 and the frequency of SS is 1 in 1,600.

Estimate the number of people in this island group with SS caused by a mutation in the MRPS16 gene. Give your answer to the nearest whole number. Show your working.

[3]
c.

The frequency of SS is higher in this island group than globally. Suggest and explain one reason why.

[2]

Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only) Questions

  1. A Level
  2. /Biology
  3. /Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only)