法医学杂志

法医学杂志 ›› 2016, Vol. 32 ›› Issue (3): 184-188.DOI: 10.3969/j.issn.1004-5619.2016.03.006

• 论著 • 上一篇    下一篇

广东汉族人群H19基因上游差异甲基化区SNP

马晓燕，何文智，袁天丽，冼嘉嘉，王晓蔓，李少英，刘海波，黎  青   

  1. （广州医科大学附属第三医院 法医物证司法鉴定所 广东省普通高校生殖与遗传重点实验室，广东 广州 510150）
  • 发布日期:2016-06-25 出版日期:2016-06-28
  • 通讯作者: 黎青，女，博士，主任法医师，硕士研究生导师，主要从事法医物证学鉴定和研究；E-mail：81292522@163.com
  • 作者简介:马晓燕（1985—），女，硕士，主要从事法医遗传学工作及DNA多态性研究；E-mail：yalena_m@foxmail.com
  • 基金资助:

    上海市法医学重点实验室开放课题（KF1305）；广州市科技计划项目（201300000095）；广东省省级科技计划项目（2013B022000023）

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

MA XIAO-YAN, HE WEN-ZHI, YUAN TIAN-LI, XIAN JIA-JIA, WANG XIAO-MAN, LI SHAO-YING, LIU HAI-BO, LI QING   

  1. （Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Institute of Forensic Identification, the Third Affiliated Hospital of Guangzhou Medical University, Guangdong 510150, China）
  • Online:2016-06-25 Published:2016-06-28

被引次数

1

摘要：  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McrBC、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（P>0.05）。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。

关键词: 法医遗传学, 多态性, 单核苷酸, DNA甲基化, H19基因, 汉族, 广东

Abstract: Objective To investigate the single nucleotide polymorphism （SNP） and haplotypes in differentially methylated region （DMR） upstream of H19 gene in Guangdong Han population. Methods The PIA typing and restriction enzyme McrBC and HpaⅡ 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.

Key words: forensic genetics, polymorphism, single nucleotide, DNA methylation, H19 gene, Han nationality, Guangdong

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