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首页> 外文期刊>Pharmacogenetics >Low frequency of CYP2A6 gene polymorphism as revealed by a one-step polymerase chain reaction method.
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Low frequency of CYP2A6 gene polymorphism as revealed by a one-step polymerase chain reaction method.

机译：CYP2A6基因多态性的频率低，通过一步聚合酶链反应方法显示。

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摘要

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.
机译：人细胞色素P450 2A6（CYP2A6）已显示可代谢激活致癌物和诱变剂。 CYP2A6的遗传多态性先前已在不同种族中报道，使用两步聚合酶链反应（PCR）方法鉴定CYP2A6 * 1，CYP2A6 * 2和CYP2A6 * 3。此外，最近在日本人群中发现了新的截短的等位基因。我们在这里报告了从人基因组DNA中CYP2A6基因的一步PCR扩增和通过限制酶消化检测完整的CYP2A6等位基因。用引物对从人基因组DNA中扩增出CYP2A6基因的诊断外显子（外显子3）。 CYP2A6基因的正向引物是独特的，它消除了人类扩增两个高度同源的CYP2A基因CYP2A7和CYP2A13的先前问题。用XcmI或DdeI消化得到的PCR产物（214bp），以分别检测CYP2A6 * 2或CYP2A6 * 3等位基因的存在。 CYP2A6 * 2的等位基因频率在白种人中分别为2.3％（n = 320），在中国人群中分别为0.7％（n = 71）。中国人群中CYP2A6 * 3等位基因频率为0.7％;而在高加索人群中未检测到CYP2A6 * 3等位基因。等位基因频率相对较低，并讨论了不同方法之间存在这种差异的原因。

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