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Module 6: Genetic Change
Quick questions on Pedigree analysis for mutations: HSC Biology Module 6
4short Q&A pairs drawn directly from our worked dot-point answer. For full context and worked exam questions, read the parent dot-point page.
What are mutations on pedigrees?Show answer
A trait may appear in a pedigree with no prior family history because of a de novo (new) mutation in a parental gamete or early in the embryo. Clues that suggest a de novo mutation:
What is q1?Show answer
A pedigree shows a trait that affects only males, appears in every generation, and is passed from affected grandfathers to half of their grandsons through carrier daughters. Identify the inheritance pattern and justify your answer. [3 marks]
What is q2?Show answer
In a pedigree of an autosomal recessive disorder, both parents are heterozygous carriers. They have four children. Calculate the probability that (a) exactly two children are affected, and (b) at least one child is affected.
What is q3?Show answer
A pedigree shows an unaffected mother and an unaffected father with an affected daughter. No relatives on either side have the disorder. (a) State why this is consistent with a new (de novo) autosomal dominant mutation.
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