PGx Lecture 3 Flashcards
What is an allele
variant/wild type form of a gene at a particular location on a chromosome
genotype
combination of alleles; genetic information responsible for a trait.
NOT observable
phenotype
physical features that are determined by the genotype and environment. OBSERVABLE
Allele nomenclature
VKORC1 1173 T
VKORC1 = gene 1173 = location of nucleotide on the gene T = nucleotide
SNP nomenclature
VKORC1 1173 C > T OR VKORC1 C1173T
VKORC1 = gene
1173 = nucleotide on the gene
C/First letter = original/wild type nucleotide
T/Second letter = nucleotide that has changed
*1
Wild type - Always
*# designates what
allele (star and number after the gene)
CYP2C19
- 1 allele
- 2 allele
- 3 allele
- 1 = wild type activity
- 2 = no enzyme activity
- 3 = no enzyme activity
CYP2C9
- 1 allele
- 2 allele
- 3 allele
- 1 = wild type activity
- 2 = decreased enzyme activity
- 3 = decreased enzyme activity
Gene nomenclature is in italics (T/F)
True
Designations for CYP2C9*3
2 = family C = subfamily 9 = specific isoform * = designation for allele 3 = allele number
rs naming system used in
SNP database (dbSNP)
Genotype nomenclature
allele of interest *2 for CYP2C19
Genotype: CYP2C19 2/2
The protein name is italicized (T/F)
False - protein is not italicized
CYP2D6 *1
wild-type
Normal
Activity score: 1