广东汉族人群H19基因上游差异甲基化区SNP

目的调查广东汉族人群中H19基因上游差异甲基化区(differentially methylated region,DMR)的单核苷酸多态性(SNP)及单倍型。方法应用PIA分型法,以限制性内切酶Mcr BC、HpaⅡ消化基因组DNA分别获得个体单亲源DNA模板链,经测序,分别获得个体H19基因上游DMR单亲源SNP等位基因、基因型及单倍型数据。结果共检出13个SNP(rs10840167、rs2525883、rs12417375、rs4930101、rs2525882、rs2735970、rs2735971、rs11042170、rs2735972、rs10732516、rs2071094、rs2107425、rs4930098)及1个突变点(g7351c)。所有位点经统计学分析均符合Hardy-Weinberg平衡定律(P0.05)。除rs12417375位点DP值为0.279,其余12个SNP DP值在0.446~0.614;g7351c突变点DP值为0.013,提示为南方汉族民族特异性位点。共检出8种单倍型(命名为单倍型1~8),其中有3种为新发现的单倍型,其DP、PIC、PE及H分别为0.891、0.714、0.524和0.758。结论 PIA分型法获得的H19基因上游DMR SNP位点及其单倍型遗传标记系统具有较高的鉴别能力,在法医学鉴定中具有较好的实用价值。

SNP in Differentially Methylated Region Upstream of H19 Gene in Guangdong Han Population

Objective To investigate the single nucleotide polymorphism(SNP)and haplotypes in differen-tially methylated region(DMR)upstream of H19 gene in Guangdong Han population.Methods The PIA typing and restriction enzyme McrBC and Hpa Ⅱ were used to digest the genomic DNA and obtain the individual uniparental DNA template strand. The data of uniparental SNP alleles, genotypes and haplotypes in DMR upstream of H19 gene were obtained by sequencing.Results A total of 13 SNPs(rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098)and one mutation locus(g7351c)were found. All loci followed the Hardy-Weinberg equilibrium(P>0.05)by statistical analysis. Except for rs12417375(DP=0.279)locus, the DP of remaining 12 SNPs were 0.446-0.614, and the g7351c mutation locus(DP=0.013)was the particular loci of the Southern Chinese Han population. Eight haplotypes(designated as haplotype 1-8) were detected, in which 3 haplotypes had not yet been reported and the DP, PIC, PE and H were 0.891, 0.714, 0.524 and 0.758, respectively.Conclusion Obtained by PIA typing, the SNP in DMR upstream of H19 gene and its haplotypes genetic marker system have a high determination power and show a good practical value in forensic identification.