【摘要】 [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NQO1基因多位点进行分析。[结果]NQO1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,rs80564684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。更多还原

【Abstract】 [Objective]To investigate the polymorphisms of NQO1 genes in Jiangsu han population.[Methods]PCR-RFPL,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.更多还原