法医学杂志

法医学杂志 ›› 2013, Vol. 29 ›› Issue (5): 360-364.DOI: 10.3969/j.issn.1004-5619.2013.05.011

• 技术与应用 • 上一篇    下一篇

中国朝鲜族H19基因上游差异甲基化区SNP分布

韦文滔1，2，王  鑫1，3，王冬梅1，田璐源1，王保捷1，庞  灏1，丁  梅1   

  1. （1． 中国医科大学法医学院，辽宁 沈阳 110001； 2. 苏州市吴江区公安局，江苏 吴江 215200； 3. 苏州市公安局，江苏 苏州 215000）
  • 发布日期:2013-10-25 出版日期:2013-10-28
  • 通讯作者: 丁梅，女，教授，博士研究生导师，主要从事法医物证学鉴定和研究；E-mail：dingmei1209@gmail.com
  • 作者简介:韦文滔（1986—），男，壮族，广西来宾人，硕士研究生，主要从事DNA多态性研究；E-mail：weiwentao0311@163.com

SNP in Differentially Methylated Region Upstream of H19 Gene in Chinese Korean Nationality

WEI WEN-TAO1,2, WANG XIN1,3, WANG DONG-MEI1, TIAN LU-YUAN1, WANG BAO-JIE1, PANG HAO1, DING MEI1   

  1. （1. School of Forensic Medicine, China Medical University, Shenyang 110001, China; 2. Suzhou Wujiang Public Security Bureau, Wujiang 215200, China; 3. Suzhou Public Security Bureau, Suzhou 215000, China）
  • Online:2013-10-25 Published:2013-10-28

摘要： 目的 调查中国朝鲜族群体中H19基因上游差异甲基化区（differentially methylated region，DMR）SNP及单倍型分布，为法医学应用及群体遗传学研究提供基础数据。 方法 收集中国朝鲜族101份无关个体血样和14份来自5个亲缘关系已知的两代家系血样，用PCR-循环测序、McrBC消化DNA后PCR方法检测H19基因上游DMR的SNP，并用亲源印记等位基因（parentally imprinted allele，PIA）分型法进行单倍型检测，再计算相关遗传学参数。 结果 在H19基因上游DMR 1 174 bp的目的基因扩增产物中，共检出13个SNP（rs10840167、rs2525883、rs12417375、rs4930101、rs2525882、rs2735970、rs2735971、rs11042170、rs2735972、rs10732516、rs2071094、rs2107425、rs4930098）和5种单倍型，有9个SNP属于高鉴别能力的遗传标记，其单倍型具有较高的个人识别率，单倍型平均基因多样性（GD）为0.714。应用McrBC酶消化基因组DNA的PIA分型法确定了家系子代样本的母源单倍型。 结论 H19基因上游DMR在中国朝鲜族群体中具有很高的遗传多态性，母源单倍型的确定进一步提高了印记基因的法医学鉴定效能。

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

Abstract: Objective To investigate SNP and distribution of haplotypes in differentially methylated region （DMR） upstream of H19 gene in Chinese Korean nationality in order to provide basic data for forensic application and population genetics research. Methods One hundred and one blood samples from unrelated Chinese Korean individuals and 14 blood samples from 5 Chinese Korean intergenerational families which known genetic relationship were collected. The SNP in DMR upstream of H19 gene were investigated by PCR-cycle sequencing and McrBC digestion followed by PCR. The haplotypes detected by parentally imprinted allele （PIA） method and relevant genetic parameters were calculated. Results Thirteen SNPs （rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098） and five haplotypes were detected in 1 174 bp target product in DMR upstream of H19 gene, with 9 SNPs having high discrimination power as good genetic markers. The average gene diversity （GD） of haplotypes was 0.714. The maternal haplotype was confirmed correctly by PIA method from McrBC-digested products of genomic DNA. Conclusion High polymorphisms exist in DMR upstream of H19 gene in Chinese Korean nationality. And determination of the maternal haplotype could furthermore enhance the forensic identification efficiency of imprinted gene.

Key words: forensic genetics, polymorphism, single nucleotide, DNA methylation, H19 gene, the Korean nationality

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