摘要
目的分析布依族人群DNA修复基因XRCC1 C26304T、G27466A与G28152A单核苷酸多态性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例血白细胞基因组DNA,利用PCR扩增限制性酶切法(PCR-RFLP)检测XRCC1 C26304T、G27466A与G28152ASNPs。结果XRCC1 C26304T SNPs基因型分布CC、CT、TT分别为64.6%、28.6%、6.8%,C、T等位基因频率分别为78.7%、21.3%。XRCC1 G27466A SNPs基因型分布GG、GA、AA分别为85.9%、12.5%、1.6%,G、A等位基因频率分别为91.7%、8.3%。XRCC1 G28152A SNPs基因型分布GG、GA、AA分别为55.2%、37.0%、7.8%,G、A等位基因频率分别为73.7%、26.3%。本研究发现XRCC1基因C26304T和G28152A两位点的SNPs组合基因型频率较高的为CC+GG 60例(31.2%);C26304T和G27466A两位点的SNPs组合基因型频率较高的为CC+GG 98例(51.0%);G28152A和G27466A两位点的SNPs组合基因型频率较高的为GG+GG 88例(45.8%)。结论本研究揭示了布依族人群XRCC1基因3位点的单核苷酸多态性、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 study genotype combination and allele frequency distribution of XRCC1 C26304T,G27466A and G28152A single nucleofide polymorphlsms （SNPs） of the X-ray repair cross-complementing gene 1 （XRCC1） in Bouyei population. Methods Genomic DNA of leukocytes in venous blood was obtained from 192 Bouyei people. The XRCC1 C26304T,G27466A and G28152A SNPs were genotyped by polymerase chain reaction restrained fragment length polymorphism technique（PCR-RFLP）. Results The genotypic frequencies of CC,CT and ＂TT were 64.6 %,28.6% and 6.8% respectively in the XRCC1 C26304T SNPs. C and T allele haplotype frequencies were 78.7% and 21.3% respectively. The genotypic frequencies of GG,GA and AA were 85.9%,12.5% and 1.6% respectively in the XRCC1 G27466A SNPs. G and A allele haplotype frequencies was 91.7% and 8.3% respectively. The genotypie frequencies of GG,GA and AA were 55.2%,37.0% and 7.8% respectively in the XRCC1 G28152ASNPs.G and A allele haplotype frequencies was 73.7% and 26.3 % respectively. The higher genotypie frequency in the natural combination distribution of XRCC1 C26304T and G28152A is CC ＋ GG, its probability being 31.2% （60 subjects）. The higher genotypie frequency in the natural combination distribution of XRCC1 C26304T and G27466A is CC ＋ GG, its probability being 51.0% （98 subjects）. The higher genotypie frequency in the natural combination distribution of XRCC1 G28152A and G27466A is GG ＋ GG, its probability being 45.8% （88 subjects）. Conclusions This study shows the features of combination distribution and frequency distribution of XRCC1 SNPs and provides the basic laboratory data for the future study relationships among XRCC1 SNPs, its physiological function and disease.
出处
《遵义医学院学报》
2006年第4期336-339,共4页
Journal of Zunyi Medical University
基金
贵州省卫生厅资助
