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Variation and the Human Genome Project

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Question 1

A pharmaceutical research study is investigating single nucleotide polymorphisms (SNPs) within the gene encoding a key cardiac receptor protein.

Explain how a single base substitution in this gene can lead to a changed physiological phenotype in an individual, and explain how sequencing the genomes of patients suspected of having cardiac disease can lead to highly personalized preventative and therapeutic clinical decisions.

[6]

Variation and the Human Genome Project Questions

  1. GCSE
  2. /Biology
  3. /Variation and the Human Genome Project