广东地区汉族人群VEGF基因5′端SNP位点遗传多态性

Genetic Polymorphisms of SNP Located in the 5′ Region of VEGF Gene in Han Population in Guangdong

目的 调查广东地区汉族人群VEGF基因5′端SNP位点的遗传多态性,为法医学应用及群体遗传学研究提供基础数据。方法 DNA微测序技术SNaPshot分析184例广东地区无关个体VEGF基因5′端4个SNP位点（rs699947、rs1570360、rs833061、rs2010963）的遗传多态性。应用PowerMarker v3.25软件进行统计分析。结果 184例广东地区汉族无关个体VEGF基因5′端4个SNP位点基因分布均符合Hardy-Weinberg平衡（P〉0.05）,每个位点均检出3种基因型。rs833061和rs699947位点紧密连锁。共检出6种单倍型,其中C-G-T-C、C-G-T-G、A-A-C-G、A-G-C-G频率均〉10%,为主要单倍型。rs699947、rs833061、rs2010963位点的个人识别率为0.583~0.634,非父排除率为0.133~0.144;4个SNP构成单倍型的个人识别率为0.868,非父排除率为0.438。结论 广东地区汉族人群VEGF基因5′端序列呈现出高度遗传多态性,可作为个人识别和亲权鉴定的遗传学指标,同时可用于相关疾病关联分析。

Objective To investigate the genetic polymorphism of SNP located in the 5＇ region of the vascular endothelial growth factor （VEGF） gene in Han population in Guangdong and provide basic data for forensic application and population genetics research. Methods The genetic polymorphisms of 4 SNP loci （rs699947, rs1570360, rs833061, rs2010963） within 5＇ region of VEGF gene of 184 unrelated indi- viduals in Han population in Guangdong were analyzed by DNA micro sequencing technology SNaPshot. The statistical analysis was carried out by PowerMarker v3.25 software. Results The genotype distribu- tions of the 4 SNP loci within 5＇ region of VEGF gene of 184 unrelated individuals in Han population in Guangdong were in accordance with Hardy-Weinberg equilibrium （/＇〉0.05） and 3 kinds of genotypes were detected from each loci. There was high linkage disequilibrium between the rs833061 and rs699947 SNP loci. Six haplotypes were observed, while the frequency of C-G-T-C, C-G-T-G, A-A-C-G and A-G-C-G were more than 10%, which were the main haplotypes. The discrimination probabilities （DP） of rs699947, rs833061, and rs2010963 loci were between 0.583 and 0.634, with the power of exclusion （PE） between 0.133 and 0.144. The DP and PE of haplotypes of 4 SNP were 0.868 and 0.438, respec- tively. Conclusion There are great polymorphisms in the 5＇ region of VEGF gene in Han population in Guangdong, which could be used as genetic indexes for individual identification and paternity testing, as well as association analysis of the related diseases.