布依族和水族人群XRCC1基因单核苷酸多态性研究

Single Nucleotide Polymorphism of XRCC1 Gene in Bouyei and Shui Populations

目的分析布依族、水族人群DNA修复基因XRCC1C26304T、G27466A与G28152A单核苷酸多态性(SNPs)及其等位基因频率与组合分布特征。方法获取自然人群个体布依族192例、水族197例血白细胞基因组DNA,利用PCR扩增限制性酶切法(PCR-RFLP)检测XRCC1C26304T、G27466A与G28152ASNPs。结果XRCC1基因中检测到3个SNPs位点C26304T、G27466A与G28152A,分别位于第6、9和10外显子中,各基因型分布均符合Hardy-Weinberg平衡;研究发现上述3个SNPs两两组合基因型在两个人群中C26304T和G28152A组合基因型有8种,C26304T和G27466A组合基因型有7种,G28152A和G27466A组合基因型有7种。结论本研究揭示了布依族、水族人群XRCC1基因3位点的SNPs、基因型及其组合分布特征,为进一步研究该基因SNPs与其生理功能和疾病的关系提供基础资料。

Objective To analyze the single nucleotide polymorphisms （SNPs）, the genotype combinations and the allele frequency distributions of the X-ray repair cross-complementing gene 1 （XRCC1） C26304T, G27466A and G28152A in Bouyei and Shui populations. Methods Genomic DNA of leukocytes in venous blood was obtained from 192 Bouyei people and 197 Shui people. The SNPs of XRCC1 C26304T, G27466A and G28152A were genotyped by polymerase chain reaction restrained fragment length polymorphism technique （PCR-RFLP）. Results Three SNPs were identified in XRCC1 C26304T, G27466A and G28152A, which were located in the exon 6, 9 and 10 respectively. All of the gene distributions matched the equilibrium law of Hardy-Weinberg. Eight genotype combinations were found in C26304T and G28152A. Seven genotype combinations were found in C26304T and G27466A. Seven genotype combinations were found in G28152A and G27466A. Conclusion This study reveals the features of the SNPs, the genotype combinations and the allele frequency distributions of XRCC1 and provides essential data for future studies regarding the relationship between XRCC1 SNPs, its physiological function and diseases.