法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (3): 358-365.DOI: 10.12116/j.issn.1004-5619.2020.501101

• 论著 • 上一篇    下一篇

基于二代测序技术的浙江畲族线粒体DNA多态性

杨琪1，2， 张静怡2，3， 张晓春1，2， 夏若成2，4， 于欢1，2， 屈轶龄1，2， 王紫薇1，2， 谭睿1，2， 张素华2， 李成涛1，2， 高玉振1   

  1. 1. 苏州大学医学部法医学系，江苏 苏州 215123； 2. 司法鉴定科学研究院 上海市法医学重点实验室 司法部司法鉴定重点实验室 上海市司法鉴定专业技术服务平台，上海 200063； 3. 郑州大学附属洛阳中心医院妇产医学实验室，河南 洛阳 471000； 4. 温州医科大学基础医学院法医学系，浙江 温州 325035
  • 发布日期:2021-06-25 出版日期:2021-06-28
  • 通讯作者: 高玉振，男，教授，博士研究生导师，主要从事法医遗传学研究；E-mail：yuzhengao@suda.edu.cn 李成涛，男，研究员，博士研究生导师，主要从事法医遗传学研究；E-mail：lichengtaohla@163.com
  • 作者简介:杨琪（1996—），女，硕士研究生，主要从事法医遗传学研究；E-mail：myjasmine77@163.com
  • 基金资助:
    上海市科学技术委员会社会发展领域计划项目（18DZ1200300）；中央级公益性科研院所基本科研业务费专项资金资助项目（GY2020D-2）；司法部司法鉴定重点实验室资助项目；上海市法医学重点实验室资助项目（17DZ2273200）；上海市司法鉴定专业技术服务平台资助项目（19DZ2292700）

Mitochondrial DNA Polymorphism in Zhejiang She Population Based on Next Generation Sequencing

YANG Qi1,2, ZHANG Jing-yi2,3, ZHANG Xiao-chun1,2, XIA Ruo-cheng2,4, YU Huan1,2, QU Yi-ling1,2, WANG Zi-wei1,2, TAN Rui1,2, ZHANG Su-hua2, LI Cheng-tao1,2, GAO Yu-zhen1   

  1. 1. Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China; 2. Shanghai Key Laboratory of Forensic Medicine, Key Laboratory of Forensic Science, Ministry of Justice, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China; 3. Laboratory of Obstetrics and Gynecology, the Affiliated Luoyang Central Hospital, Zhengzhou University, Luoyang 471000, Henan Province, China; 4. Department of Forensic Medicine, School of Basic Medical Sciences, Wenzhou Medical University, Wenzhou 325035, Zhejiang Province, China
  • Online:2021-06-25 Published:2021-06-28

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摘要： 目的 研究线粒体DNA（mitochondrial DNA，mtDNA）全基因组在浙江畲族的遗传多态性，探究畲族的母系遗传结构。 方法 对浙江畲族231名无关个体进行mtDNA全基因组测序，统计变异位点信息及单倍型多样性（haplotype diversity，HD）、个体识别率（discrimination power，DP）、随机匹配概率（random match probabilities，RMP）等群体遗传学参数。对浙江畲族样本mtDNA进行单倍群划分，并与中国其他9个群体进行母系遗传关系比较。 结果 在231例浙江畲族样本中共检测到8 507个变异位点（702种），可划分为94个单倍群。HD、DP和RMP分别为0.998 6、0.994 2和0.005 8。浙江畲族与南方汉族群体之间的遗传分化程度最小（Fst=0.006 89），主成分分析及中介网络分析表明浙江畲族虽与广西瑶族、云南傣族、南方汉族遗传距离较近，但亦具有相对独特的遗传特征。 结论 mtDNA全基因组在浙江畲族中具有良好的遗传多态性，浙江畲族的遗传组分较为复杂多元，与广西瑶族、云南傣族、南方汉族的母系遗传关系较近，同时也保留了其独特的母系遗传成分。

关键词: 法医遗传学；多态现象, 遗传；二代测序；线粒体DNA；畲族

Abstract: Objective To study the genetic polymorphism of whole mitochondrial DNA （mtDNA） genomes in She population in Zhejiang and to explore the maternal genetic structure of the She population. Methods Whole mtDNA genomes of 231 unrelated individuals from She population in Zhejiang Province were sequenced. The number of mutations and population genetics parameters such as, the haplotype diversity （HD）, discrimination power （DP）, and random match probabilities （RMP） were analyzed. The mtDNA haplogroups of Zhejiang She population were classified, and the maternal genetic relationships between She and nine other Chinese populations were estimated. Results In 231 Zhejiang She samples, 8 507 mutations （702 types） were observed and the samples were classified into 94 haplogroups. The HD, DP and RMP values were 0.998 6, 0.994 2 and 0.005 8, respectively. The lowest genetic differentiation degree （Fst=0.006 89） was detected between Zhejiang She population and southern Han population. Principal component analysis （PCA） and median-joining network analysis showed that the genetic distance of Zhejiang She population with Guangxi Yao, Yunnan Dai and Southern Han populations was relatively close, but the population still had some unique genetic characteristics. Conclusion The whole mtDNA genomes are highly polymorphic in Zhejiang She population. The Zhejiang She population contains complex and diverse genetic components and has a relatively close maternal genetic relationship with Guangxi Yao, Yunnan Dai and Southern Han populations. Meanwhile, Zhejiang She population has kept its unique maternal genetic components.

Key words: forensic genetics, polymorphism, genetic, next generation sequencing, mitochondrial DNA, She ethnic group

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