[目的]探讨NQO1基因7个常见位点在江苏汉族人群中的多态性分布。[方法]应用聚合酶链式反应-限制性片断长度多态性(PCR—RFPL)、等位基因特异性引物-聚合酶链反应技术(AS—PCR)及普通Taqman探针等技术方法,对658例正常体检样本NQ01基因多位点进行分析。[结果]NQ01基因相关位点野生型纯合子、杂合子、突变纯合子3种基因型的分布频率分别是:rs1800566 44.8%,36.4%,18.8%;rs4986998 93.5%,6.2%,0.3%;rs10517 16.1%.60.1%,23.8%;编码区rs11555215和非编码区rs1050873,rs1063556,rs8056468 4个位点未检测到杂合子和突变纯合子。[结论]本研究结果与国内外相关报道有一定的差异。对了解不同种族、不同地域人群NQO1基因的遗传特征具有一定的参考价值。
[ Objective] To investigate the polymorphisms of NQO1 genes in Jiangsu ban population. [ Methods] PCRRFPL, AS-PCR and Taqman probe technique was used to perform genotyping. [Results] The genotyp results of 658 individuals showed that the population distribution frequency of related sites genotypes of wild type, heterozygote, homozygous variant were rs1800566 44.8%, 36.4%, 18.8%; rs4986998 93.5%, 6.2%, 0.3%; rs10517 16.1%, 60.1%, 23.8% respectively. Heterozygote and homozygous variant were not detected in another four sites. [ Conclusion ] These results differ from those of abroad and domestic among other population. It is significant to discuss genetic characteristics of NQO1 in different races and areas.