Pharmacogenetics Definitions

dmreid2644's version from 2015-04-29 16:17


Question Answer
Chormosomecarries genes - have 23 pairs (46 total)
Genesection of DNA coding for a protein
Condon3 nucleic acids that code for 1 amino acid or start/stop
Polymorphismmore than one genetic variant which are stable components in the population; must have 2 distinct populations separated by an antimode based on phenotype
Genotypegenetic composition
Homozygoustwo of the same alleles on each chromosome
Heterozygous two different alleles on each chromosome
Phenotype clinical expression of the trait (metabolism)
SNPsingle nucleotide polymorphism in the codon
SNP synonymousSNP that doesn't result in a change in AA
SNP non-synonymousSNP that does result in a change in AA
INDELs insertion or deletions
HaplotypeGroup of alleles on one chromosome
Allele alternative form of a gene at a given locus
Wild Type"normal" most common allele
Variantalternative - not the most common
Null variant completely lacks gene function
Copy Number variation one protein is produced more or less than another
Tag SNPlinkage disequilibrium - SNPs passed on as a "package" to generations