Biology 9700 · AS & A Level · Passage of information from parents to offspring

Passage of information from parents to offspring — practice question

The $HFE$ gene specifies the $HFE$ protein, which helps regulate how much iron the body absorbs. Iron is an essential mineral that can be obtained only from food in the diet. A mutation of the $HFE$ gene called C282Y causes hereditary haemochromatosis, which is an autosomal recessive disease. The mutant allele codes for a non-functioning $HFE$ protein. Individuals who are homozygous for the mutant allele make no functioning $HFE$ protein, so an excess of iron is absorbed by the body. The build-up of iron in body organs over many years can lead to organ damage. People who are heterozygous for the $HFE$ gene do not have hereditary haemochromatosis. They absorb more iron from their diet than people without the mutation, but this usually has no health effects.
(a)[3]

Construct a genetic diagram for a monohybrid cross to demonstrate how two parents without hereditary haemochromatosis can have a child with the disease. Use the following symbols: $H$ = normal $HFE$ allele; $h$ = mutant $HFE$ allele.

(b)[2]

Some scientists think that the C282Y mutation may have originated in Ireland. Scientists sequenced DNA taken from two human fossil skeletons in Ireland. One fossil was 5200 years old and the other was 4000 years old. The scientists concluded that: • the human living 4000 years ago did have the C282Y mutation; • the human living 5200 years ago did not have the C282Y mutation. Explain how the results of these DNA sequencing studies could have been analysed so that the scientists could reach these conclusions.

(c)
(c(i))[4]

Suggest how the C282Y allele of the $HFE$ gene has persisted in European populations.

(c(ii))[3]

Suggest explanations for why the percentage of people in different European countries who have one C282Y allele of the $HFE$ gene differs, as shown in Fig. 4.1.

(d)[1]

Suggest one explanation for the differences between the three databases shown in Table 4.1.

(e)[2]

In a population of 2501 people, 9 were homozygous recessive for the $HFE$ gene. Use equation 1 and equation 2 of the Hardy-Weinberg principle to work out how many people in the population are heterozygous for the $HFE$ gene. Equation 1: $p + q = 1$. Equation 2: $p^2 + 2pq + q^2 = 1$.

Worked solution & mark scheme

This 15-mark question has a full step-by-step worked solution and mark scheme. One marking point: Gametes from the parents $Hh \times Hh$

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