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Lookup NU author(s): Professor Ann DalyORCiD
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Human cytochrome P450 2A6 (CYP2A6) has been shown to metabolically activate carcinogens and mutagens. Genetic polymorphisms for CYP2A6 have been reported previously in different ethnic groups using a two-step polymerase chain reaction (PCR) method to identify CYP2A6*1, CYP2A6*2 and CYP2A6*3. Moreover, a new truncated allele has been recently identified in a Japanese population. We report here a one-step PCR amplification of the CYP2A6 gene from human genomic DNA and the detection of intact CYP2A6 alleles by restriction enzyme digestion. The diagnostic exon (exon 3) of the CYP2A6 gene was amplified from human genomic DNA with a primer pair. The forward primer is unique to the CYP2A6 gene, which eliminates previous problems in amplifying two highly homologous CYP2A genes, CYP2A7 and CYP2A13, in humans. The resulting PCR products (214 bp) were digested with XcmI or DdeI to detect the presence of CYP2A6*2 or CYP2A6*3 alleles, respectively. The allelic frequencies for CYP2A6*2 were 2.3% (n = 320) in the Caucasian and 0.7% (n = 71) in the Chinese populations, respectively. CYP2A6*3 allelic frequency in the Chinese population was 0.7%; while no CYP2A6*3 allele was detected in the Caucasian population. The allelic frequencies are relatively low and the reason for this discrepancy between different methods is discussed.
Author(s): Chen G-F, Tang Y-M, Green B, Lin D-X, Guengerich FP, Daly AK, Caporaso NE, Kadlubar FF
Publication type: Article
Publication status: Published
Journal: Pharmacogenetics
Year: 1999
Volume: 9
Issue: 3
Pages: 327-332
Print publication date: 01/01/1999
ISSN (print): 0960-314X
ISSN (electronic): 1744-6880
Publisher: Lippincott Williams & Wilkins
URL: http://dx.doi.org/10.1097/00008571-199906000-00007
DOI: 10.1097/00008571-199906000-00007
PubMed id: 10471064
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