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目的探讨江苏省汉族正常人群中X线修复交叉互补基因1(XRCC1)常见的两个单核苷酸多态(SNPs)C26304T和G27466A的遗传分布特点。方法采用聚合酶链反应(PCR)及限制性片段长度多态(RFLP)方法分析江苏省扬中地区511名健康汉族人的XRCC1基因C26304T和G27466A的基因多态性。结果511名江苏汉族人的XRCC1C26304T基因型CC、CT、TT的频率分别为45.8%、42.7%和11.5%,等位基因C、T的频率分别为67.1%和32.9%。G27466A基因型GG、GA、AA的频率分别为68.9%、29.0%和2.1%,等位基因G、A的频率分别为83.4%和16.6%。江苏人群的C26304T基因型频率和等位基因频率分布与浙江、台湾人群均无明显差异(P>0.05),但与意大利人、美国白人、美国黑人的差异具有显著性(P<0.05)。江苏人群的G27466A基因型频率和等位基因频率分布与浙江人、台湾人、意大利人、美国白人、美国黑人的差异均具有显著性(P<0.05)。结论本研究揭示了江苏汉族人群XRCC1基因C26304T和G27466A的等位基因频率和基因型频率分布特点;证实了C26304T和G27466A位点的等位基因和基因型频率存在种族、地区差异。
Objective To investigate the genetic distribution of two common nucleotide polymorphisms (SNPs) C26304T and G27466A in XRCC1 in normal population of Han nationality in Jiangsu Province. Methods Polymorphisms of XRCC1 gene C26304T and G27466A in 511 healthy Han nationality in Yangzhong area of Jiangsu Province were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results The frequencies of CC, CT and TT of XRCC1C26304T were 45.8%, 42.7% and 11.5%, respectively. The frequency of allele C and T were 511.1% and 32.9%, respectively. The frequencies of GG, GA and AA in G27466A genotypes were 68.9%, 29.0% and 2.1%, respectively. The frequencies of alleles G and A were 83.4% and 16.6%, respectively. The frequency of C26304T genotype and allele frequency distribution in Jiangsu population were not significantly different from those in Zhejiang and Taiwan (P> 0.05), but significantly different from those in Italian, American whites and African Americans (P <0.05). The differences of genotype frequency and allele frequency distribution between G27466A genotype and allele in Jiangsu population and those of Taiwanese, Taiwanese, Italian, American whites and black Americans in Jiangsu province were significant (P <0.05). Conclusion The present study revealed the allele frequency and genotype frequency distribution of XRCC1 gene C26304T and G27466A in Jiangsu Han population. It was confirmed that the allele and genotype frequency of C26304T and G27466A loci were different from each other in race and region.