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Question 22N.2.SL.TZ0.d

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Date November 2022 Marks available [Maximum mark: 2] Reference code 22N.2.SL.TZ0.d
Level SL Paper 2 Time zone TZ0
Command term Explain Question number d Adapted from N/A
d.
[Maximum mark: 2]
22N.2.SL.TZ0.d

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.

[Source: From The New England Journal of Medicine, Hopmeier, P. and Krugluger, W., n.d. Factor V Leiden and
Thrombophilia. [diagram online] Available at: https:// www.nejm.org/doi/full/10.1056/nejm199505183322014
[Accessed 2 November 2021], Vol. 332 No. 20. Page No. 1381. Copyright © 1995 Massachusetts Medical
Society. Reprinted with permission from Massachusetts Medical Society.]

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

[2]

Markscheme
  1. sequence of DNA bases determines the amino acid sequence of a protein;
  2. changing one base (on the DNA) can cause the triplet /mRNA to code for a different amino acid;
  3. changing one base (on the DNA) causes a different protein to be made (during translation);