Pharmacology 2060A/B Lecture Notes - Lecture 17: Anticoagulant, Udp Glucuronosyltransferase 1 Family, Polypeptide A1, Anticonvulsant

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Polymorphism ( many forms ) dna variations that are common, often defined as >1% frequency, Single nucleotide polymorphisms (snps) most common changes, are due to a change in 1 nucleotide. Mutation rare variants (1%), most often in coding regions, which are associated with heritable disease, such as cystic fibrosis or sickle cell anemia. Genetic variant a difference in dna sequence compared with a reference sequence (wildtype) Genotype genetic makeup or genetic constitution of an individual, often referring to both chromosomes. Haplotype a set of genetic variants on one chromosome that are inherited together. Phenotype measurable characteristics of an individual (ex: activity of an enzyme), may derive from genotype, environment, or their combination. Individuals with the same phenotype can have different genotypes. Allele alternated dna sequence of the same gene/locus, one is inherited from each parents, may lead to phenotypic expression.

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