Pharmacogenetics

Question 1

What is pharmacogenetics?

Answer 1

the study of individual genes and determining genetic variations in a patient that give rise to differing drug responses

Question 2

The human genome consists of 3.2 billion nucleotides of sequence. True or false?

Answer 2

True

Question 3

Human genome estimated humans have between 20,000 and 25,000 genes. True or false?

Answer 3

True

Question 4

What is the most common type of genetic polymorphism that results in a single base change?

Answer 4

Single Nucleotide Polymorphism (SNP)

Question 5

There are roughly 3 million SNPs which occur every 1000 base pair. True or false?

Answer 5

False - occur every 250-500 base pair

Question 6

What are the most common SNPs?

Answer 6

Allelic variants

Question 7

How many exons and how many introns does the mRNA transcript of CYP2d6 have?

Answer 7

9 exons

8 introns

Question 8

Why are exonic SNPs the most important?

Answer 8

They can change the amino acid sequence of the protein

Question 9

Inter-individual genetic variability don’t lead to ADRs. True or false?

Answer 9

False - they lead to ADRs

Question 10

Individuals with higher rates of metabolism than expected get therapeutic benefits. True or false?

Answer 10

False - they do not get therapeutic benefit due to lack of efficacy

Question 11

Individuals with lower rates of metabolism experience toxicity and side effects. True or false?

Answer 11

True

Question 12

ADRs account for 1 in 16 hospital admissions. True or false?

Answer 12

True

Question 13

Herceptin was one of the first drugs developed based on pharmacogenetic information. What was it used to treat?

Answer 13

Late stage breast cancer

Question 14

Herceptin was designed to reduce the expression of which protein in late stage breast cancer sufferers?

Answer 14

HER2

Question 15

The use of Herceptin is limited to cancers in which HER2 is over expressed. True or false?

Answer 15

True