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27 Cards in this Set
- Front
- Back
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SNP nomenclature: the first few letters idenify the _________ VKORC1 1173 C>T |
the gene |
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SNP nomenclature: the numbers following the gene represent
VKORC1 1173 C>T |
nucleotide on the gene |
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C > T: the first letter represents |
original/wild-type nucleotide |
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C>T: the second letter represents |
the nucleotide that has changed to result in the SNP |
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VKOR stands for ______. What is it involved in? |
vitamin K oxide reductase: involved in vitamin K metabolism and therefore warfarin metabolism |
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ABC stands for |
ATP binding cassette |
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ABC is also known as |
MDR1 gene
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MDR1 gene encodes for |
P-gp |
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What is Pgp? |
P-glycoprotein efflux transporter |
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How might a polymorphism impact a drug? |
may affect a drug PK or PD resulting in changes in dosing, efficacy, or toxicity also could have no effect at all. |
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what does "rs" mean in SNP nomenclature |
reference SNP |
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CYP2C19*1 What do the bold letters/#'s represent?
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the gene |
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CYP2C19*1 What des the bold # represent? |
the allele |
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What is an allele? |
One of a number of alternative forms of the same gene |
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Which one is the wild-type? CYP2C19*1 CYP2C19*2 |
*1 is the wild-type (in most cases; this is the first allele discovered) the most prevalent in the population |
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CYP2C19 function varies based on the allele What is the level of enzyme activity for *1, *2, *3? |
*1- normal (wild type) activity *2 and *3 no activty |
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CYP2C9 function varies based on the allele What is the level of enzyme activity for *1, *2, *3? |
*1-normal (wild type) activity *2 and *3 decreased activity |
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What is a haplotype? |
set of alleles at multile loci on a gene that co-exist on the same chromosome |
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What is linkage disequilibrium? |
when a set of alleles occurs at a higher frequency than would be predicted by random chance |
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ABCB1 3435 C>T is what kind of SNP? What is the amino acid change? |
synonymous; isoleucine is unchanged |
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TPMT*3A is what kind of SNP? What is the amino acid change? |
non-synonymous |
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What nucleotide changes occur in TPMT*3A SNP? |
TPMT 615 G>A: alanine to tyrosine TPMT 874 A>G: threonine to cysteine |
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What affect does the TPMT*3A SNP have on the enzyme? |
decreased activity |
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Drugs that are metabolized by TPMT |
azathioprine, 6-mercaptopurine |
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What role does TPMT play in azathioprine metabolism? |
after azathioprine is converted to 6-mercaptopurine TPMT converts it to an inactive metabolite |
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What is the result of a TPMT*3A SNP? |
decreased TPMT activity results in accumulation of active metabolites (6-MP, 6-TG) and leads to toxicity |
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CYP2C19*3 is a SNP that results in what type of amino acid change? what is the amino acid change |
Premature stop codon. G>A changes tryptophan to STOP |
