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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 4

Laroque syndrome (LS) is a rare, recessive, inherited condition.

LS is caused by a mutation in any one of several genes involved in peroxisome biogenesis.

In 75%75\%75% of people with LS, these mutations occur in nuclear DNA. In 25%25\%25% of people with LS, these mutations occur in mitochondrial DNA (mtDNA).

15%15\%15% of the nuclear DNA mutations that cause LS occur in the PEX11B gene. A mutated PEX11B gene codes for a shorter polypeptide than a non-mutated PEX11B gene.

a.

Name one type of PEX11B gene mutation and explain how this mutation could lead to the production of a shorter polypeptide.

[2]
b.

Globally, the frequency of LS is 1 in 100,000. In a specific isolated fjord community, the population is 64,000 and the frequency of LS is 1 in 800.

Estimate the number of people in this fjord community with LS caused by a mutation in the PEX11B gene. Give your answer to the nearest whole number. Show your working.

[3]
c.

The frequency of LS is higher in this fjord community 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)