IB Biology SL D1.3.2 Base Substitution Consequences Topic Practice

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Study D1.3.2—Base substitution consequences conceptsOpen the corresponding Concept lesson for explanations, examples and exam connections.

Question 1

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Thrombophilia is a human genetic condition where the blood has an increased tendency to clot. The condition is caused by a single base substitution mutation in DNA. If a person is homozygous for the gene, they are at greater risk for developing a blood clot than an individual who is heterozygous. The pedigree chart shows the inheritance of thrombophilia in a family.

Figure for Question 1 — IB Biology SL

Explain how a single base substitution mutation in DNA can cause a change to a protein.

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