Exam 2 Pharm Genetics

Question 1

Pharm Genetics vs Genomics?

Answer 1

Genetics = Single gene, genetically-determined variation

Genomics = Multi-gene/Whole genome

Question 2

Most C type of mutations?

Answer 2

Nucleotide-based (causes small ∆s)

Question 3

Uncommon type of mutations?

Answer 3

Chromosomal dup or deletion (large ∆s)

Question 4

Types of Single Nucleotide Polymorphism (SNP)? (3)

Answer 4

Base substit
Base insertion
Base deletion

Question 5

Results of SNP? (2)

Answer 5

Frameshift

In-frame ∆

Question 6

Protein-level consequences of SNP? (3)

Answer 6

Neutral mutation
Loss-of-fxn (complete or partial loss)
Gain-of-fxn (overactivity or now trait)

Question 7

NAT2 Change-in-Fxn results in?

Answer 7

Forms amide on drugs ->

Makes rapid or slow acetylation

Question 8

CYP2D6 gene-copy results in?

Answer 8

(CYP2D6 is 2nd most C metabolizing enzyme)

> 90 alleles =
Poor, Intermediate, Extensive (Normal) or Ultrarapid metabolizers