Pharmacogenomics 1 Flashcards
What allele nomenclature provides information on which allele is the wild type?
A. Alpha/numeric
B. Star
C. RS
B. Star
C. RS - this is identification of the variant
SNP polymorphisms are the only type that have clinical relevance. T/F
False
What does VKORC1 code for?
It is vitamin K oxidative reductase complex 1 and it codes for the warfarin enzyme.
What do the first few letters/numbers of the allele numeric/alphabetic nomenclature identify?
The gene
What do the numbers of allele Numeric/Alphabetic Nomenclature identify?
They indicate the location of the nucleotide on the gene. ex: 1173
What does Allelle Numeric/Alphabetic Nomenclature look like?
VKORC1 1173 T
Are you able to tell which allele is the wild type or the variant on Allele Numeric/Alphabetic nomenclature?
No
What are the different ways to name a polymorphism?
Allele Numeric/Alphabetic Nomenclature SNP Nomenclature Allele Star Nomenclature Reference SNP Nomenclature (rs) Genotype Nomenclature Haplotype Nomenclature
What is an example of SNP nomenclature?
VKORC1 1173 C>T
What does the C represent in the example of VKORC1 1173 C>T?
The wildtype
What does the T represent in the example of VKORC1 1173 C>T?
The change that made the polymorphism
What is an example of Allele Star Nomenclature?
CYP2C19 *1 - wildtype
What are the different alleles of the CYP2C19 and what is their enzyme activity?
*1 - wild type so has normal activity
*2 - no enzyme activity
3 - no enzyme activity
(2 and *3 stop transcription and therefore result in an short enzyme that doesn’t work)
What are the different alleles of the CYP2C9 and what is their enzyme activity?
- 1 - wild type so has normal activity
- 2 - decreased enzyme activity
- 3 - decreased enzyme activity
_____ are considered the junk where as ______ are transmitted into genes.
Introns are considered the junk (however now they are starting to believe they have more significance) where as exons are transmitted into genes.
What is rs nomenclature?
Reference SNP is a naming system used in the SNP database. dbSNP is the single database for all genetic variation information.