Fundementals

Question 1

Pharmacogenetics

Answer 1

Study of the relationship between variations in a single gene and variability in drug disposition, response, and toxicity

Question 2

Pharmacogenomics

Answer 2

Study of the relationship between variations in a large collection of genes and variability in drug disposition, response, and toxicity.

Question 3

Codon

Answer 3

sequence of 3 nucleotide that code for an amino acid

Question 4

Exon

Answer 4

coding regions that stay in the transcript

Question 5

Intron

Answer 5

intervening portions of a gene that don’t for an amino acid

Question 6

Gene

Answer 6

region of DNA that contains the code for biological component (protein)

Question 7

Genome

Answer 7

complete set of DNA and other nucleotide sequences

Question 8

Polymorphism

Answer 8

A genetic variant that is common, often defined as 1% or more in the population

Question 9

synonymous polymorphism-

Answer 9

codes for the same AA even with the change

Question 10

non-synonymous polymorphism

Answer 10

change codes for a different AA

Question 11

Mutation

Answer 11

A genetic variant that is rare, often defined as less than 1% in the population

Question 12

Genetic Varient

Answer 12

is a difference in the DNA sequence compared with a reference sequence

Question 13

Chromosome

Answer 13

single piece of DNA containing many genes and other nucleotide sequences

Question 14

Single Nucleotide polymorphism

Answer 14

Difference in one nucleotide (base pair)

SNPs account for about 90% of variation in the human genome

Question 15

Insertion/deletion polynorphism

Answer 15

Insertion or deletion of multiple consecutive nucleotides from the DNA sequence

Question 16

Variable tandem repeat poly morphisms

Answer 16

A sequence of nucleotides is repeated a variable number of times.