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AQA · GCSE · Biology · Higher

Pedigree evidence for heterozygosity

Q06.2 2 marks

Polydactyly is an inherited disorder caused by a dominant allele. Figure 10 shows the inheritance of polydactyly in one family.

Figure 10
Figure 10

Figure 10

Enlarged question image

Figure 10
Key
D
allele for having polydactyly
d
allele for not having polydactyly

Person 1 is heterozygous. Explain how Figure 10 shows that person 1 is heterozygous.

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Marking points

  1. 1 Uses person 1's polydactyly phenotype to infer a D allele.
  2. 2 Uses unaffected child 5 (dd) to infer that person 1 also supplied a d allele.

Full-mark answer

Person 1 has polydactyly, so he has a D allele. Person 5 does not have polydactyly and must be dd, so person 5 inherited a d allele from person 1. Person 1 is therefore Dd.

Why this answer loses marks

Person 1 is affected, so they must be heterozygous.

Being affected shows a dominant allele but not the recessive one; the unaffected child proves the recessive allele was passed on.