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Ultrarapid metabolizers of debrisoquine: Characterization and PCR‐based detection of alleles with duplication of the CYP2D6 gene
Author(s) -
Løvlie Roger,
Daly Ann K.,
Molven Anders,
Idle Jeffrey R.,
Steen Vidar M.
Publication year - 1996
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(96)00779-x
Subject(s) - gene duplication , debrisoquine , allele , genetics , biology , cyp2d6 , gene , homologous chromosome , microbiology and biotechnology , genotype
Up to 7% of Caucasians may demonstrate ultrarapid metabolism of debrisoquine due to inheritance of alleles with duplicated functional CYP2D6 genes. Here we describe the genomic organization of the duplicated CYP2D6 genes in the 42 kb Xba I allele. We postulate that this duplication originates from a homologous, unequal cross‐over event which involved two 29 kb Xba I wild‐type alleles, and had break points within a 2.8 kb direct repeat (CYP‐REP) flanking the CYP2D6 gene. Moreover, we have designed two different PCR assays for detection of alleles with duplicated CYP2D6 genes. Both assays correctly identified 29 out of 29 subjects positive for the 42 kb Xba I allele. No false negative or false positive reactions were observed.