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Flashcards in Pharmacogenetics Deck (12):
1

Pharmacogenetics

Genetic factors that alter an individual's drug response to a drug

  • genetic polymorphisms
  • less common genetic variants

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Genotype

An individual's composition at the gene level,  i.e. the specific genes they have

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Phenotype

An individual's expression of their genotype

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Genetic polymorphism

Mendelian trait that exists in the population in at least two phenotypes neither of which is rare (i.e. at least one variant that represents greater than 1% of total pool)

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Single nucleotide polymorphism (SNP)

A change in one single base pair in the DNA sequence that differs from the "wild type" or predominant sequence

  • these may or may not result in an altered phenotype

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Haplotype

Refers to closely linked genetic markers on a chromosome that tend to be inherited together

  • often within a gene or closely linked genes

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Halotypes

Refers to a cluster of SNPs that occur together in an individual (and are of interest to a phenotype)

  • useful for categorizing individuals to understand how clusters of SNPs can contribute ot phenotype
  • multiple SNPs may be in a single gene (similar to haplotype) or multifactorial, multiple genes not necessarily inherited as a unit

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Autosomal co-dominance

Each allele contributes to phenotype

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Autosomal recessive

Wild-type allele has predominant effect; it takes two recessive alleles to see the effect

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Autosomal dominant

A single allele predominates over the presence of other possible alleles

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X-linked inheritance

Genes inherited on X chromosome; all males will express these traits (males are hemizygous)

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