江苏汉族人群XRCC1基因的遗传多态性研究

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XRCC1 C26304T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。

Analysis on polymorphisms of XRCC1 gene in Han Chinese in Jiangsu province

Objective:To explore the genetic distribution of two common single nucleotide polymorphisms(SNPs)of XRCC1 gene,C26304T and G27466A,in Han Chinese in Jiangsu Province.Methods:Totally,511 healthy Han citizens of Yangzhong county in Jiangsu Province were recruited and the genotypes of XRCC1 C26304T and G27466A were detected with PCR based restrictive fragment length polymorphism(RFLP).Results:Among 511 subjects,the frequencies of the CC,CT and TT genotypes were 45.8%,42.7% and 11.5% respectively,and the allele frequencies of C and T were 67.1% and 32.9% respectively;the frequencies of the GG,GA and AA genotypes were 68.9%,29.0% and 2.1% respectively,and the allele frequencies of G and A were 83.4% and 16.6% respectively.The genotype and allele frequencies of c26304T were statistically different from those in Italian,American White,and American Black,but not from Han Chinese in Zhejiang and Taiwan.Also,the genotype and allele frequencies of G27466A were significantly different from those in Han Chinese in Zhejiang and Taiwan,Italian,American White and American Black.Conclusion:This study presented the allele and genotype frequencies of XRCC1 gene C26304T and G27466A in Han Chinese in Jiangsu Province,and revealed the ethnic and geographic difference of these two loci.