The Genetic Variation of CYP2D6 Gene in the Bosnian Population

Medical Archives
Hilada Nefic

Abstract

Genetic polymorphism is associated with individual responses to medication and susceptibility to diseases, and it represents the basis for individualized medical treatment and drug genomics studies. Genetic variation at CYP2D6 is high, both among populations and among individuals in the same population. The aim of the study was to investigate the CYP2D6 gene duplication and the non-synonymous single-nucleotide polymorphisms (SNP) 100C>T in the CYP2D6 gene in members of the Bosnian population. The blood samples were collected from 151 unrelated and healthy donors from Bosnian populations consisted of 94 females and 57 males. Duplex long-range PCR was used to determine whether individuals carrying CYP2D6 gene duplication. The resulting PCR product of 5.1 kb, containing all nine CYP2D6 exons, was used as template for detection of the CYP2D6 100C>T allele by nested PCR. The CYP2D6 gene duplication frequency found in the Bosnian population (2.73%) was related to the frequencies of this allele in other Caucasians. The gene duplication is the result of inheritance of more than two copies of the fully functional CYP2D6 alleles. In contrast, the frequency of the CYP2D6 100C>T variant, with possibly damaging function, in the Bosnian popu...Continue Reading

Citations

Feb 5, 2021·European Journal of Drug Metabolism and Pharmacokinetics·Subrata Deb, Scott Arrighi

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Methods Mentioned

BETA
genotyping
PCR
electrophoresis
Phenotyping

Software Mentioned

MedCalc
HW
PolyPhen
HumDiv
HumVar

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