法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (5): 553-559.DOI: 10.12116/j.issn.1004-5619.2019.05.008

所属专题： 人体表征分子鉴识

• 专题 • 上一篇    下一篇

中国不同语系人群的色素表型推断

梁鳅双1，2， 刘明1，3， 陶现明4， 刘凡4， 曾发明3， 李彩霞1， 赵雯婷1   

  1. 1. 公安部物证鉴定中心 现场物证溯源技术国家工程实验室 法医遗传学公安部重点实验室 北京市现场物证检验工程技术研究中心，北京 100038； 2. 广西玉林市公安局，广西 玉林 537000； 3. 昆明医科大学法医学院，云南 昆明 650500； 4. 中国科学院北京基因组研究所 中国科学院精准基因组医学重点实验室，北京 100101
  • 发布日期:2019-10-25 出版日期:2019-10-28
  • 通讯作者: 赵雯婷，女，博士，副主任法医师，主要从事法医遗传学研究；E-mail：wtzhao@sibs.ac.cn 李彩霞，女，博士，主任法医师，主要从事法医遗传学研究；E-mail：licaixia@tsinghua.org.cn
  • 作者简介:梁鳅双（1983—），女，主检法医师，主要从事法医物证学研究；E-mail：15188679@qq.com 刘明（1989—），男，硕士研究生，主要从事法医物证学研究；E-mail：mingliu2019@foxmail.com
  • 基金资助:
    国家重点研发计划资助项目（2017YFC080351）；中央级公益性科研院所基本科研业务费资助项目（2018JB046，2017JB025）；公安部物证鉴定中心国家科技资源共享服务平台计划资助项目（YCZYPT[2017]01-3）

Pigmentation Phenotype Prediction of Chinese Populations from Different Language Families

LIANG Qiu-shuang1,2, LIU Ming1,3, TAO Xian-ming4, LIU Fan4, ZENG Fa-ming3, LI Cai-xia1, ZHAO Wen-ting1   

  1. 1. National Engineering Laboratory for Crime Scene Evidence Investigation and Examination, Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China; 2. Guangxi Yulin Public Security Bureau, Yulin 537000, Guangxi Province, China; 3. School of Forensic Medicine, Kunming Medical University, Kunming 650500, China; 4. Beijing Institute of Genomics, Chinese Academy of Sciences, Key Laboratory of Precision Genome Medicine, Beijing 100101, China
  • Online:2019-10-25 Published:2019-10-28

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摘要： 目的 对中国不同语系人群的色素表型进行推断及差异分析，为法医人类学和遗传学提供数据参考。 方法 在实验室构建包含41个色素表型相关位点的HIrisPlex-S复合扩增检验体系，对分布在中国不同区域的印欧、汉藏、阿尔泰、苗瑶、侗台、南亚6个语系的17个人群的2 666份成年男性DNA样本进行分型检验。通过在线推断模型（https://HIrisPlex.erasmusmc.nl/）进行色素表型分类推断，并对输出数据进行统计分析。 结果 印欧语系及阿尔泰语系的亚欧混合人群有1.92%的蓝色眼睛和34.29%的棕色、金色头发个体，其他人群的眼睛和头发颜色表型没有明显差异，均为棕色眼睛和黑色头发。各人群肤色具有语系和地域差异：印欧语系人群肤色最浅，南亚语系人群肤色最深；西南地区少数民族人群较平原地区人群肤色偏深。 结论 中国人群的色素表型推断结果与对各人群的外观认知基本一致，证明体系可靠性较佳。眼睛、头发颜色主要与祖源成分相关，肤色则呈现出语系间的差异性，并与人群地域分布密切相关。

关键词: 法医遗传学, 法医人类学, 表型, 色素, 语系

Abstract: Objective To predict the pigmentation phenotypes of Chinese populations from different language families, analyze the differences and provide reference data for forensic anthropology and genetics. Methods The HIrisPlex-S multiplex amplification system with 41 loci related to pigmentation phenotypes was constructed in the laboratory, and 2 666 DNA samples of adult males of 17 populations from six language families, including Indo-European, Sino-Tibetan, Altaic, Hmong-Mien, Tai-Kadai and Austro-Asiatic language families distributed in different regions of China were genotyped. The pigmentation phenotype category of each individual was predicted using the online prediction system （https://HIrisPlex.erasmusmc.nl/）, and then the output data were statistically analyzed. Results About 1.92% of the individuals of Asian-European admixed populations from Indo-European and Altaic language families had blue eyes and 34.29% had brown or gold hair. The phenotypes of the color of eyes and hair of other populations had no significant difference, all individuals had brown eyes and black hair. There were differences in skin color of populations of different language families and geographical areas. The Indo-European language family had the lightest skin color, and the Austro-Asiatic language family had the darkest skin color; the southwestern minority populations had a darker skin color than populations in the plain areas. Conclusion The prediction results of pigmentation phenotype of Chinese populations are consistent with the perception of the appearance of each population, proving the reliability of the system. The color of eyes and hair are mainly related to ancestral components, while the skin color shows the differences between language families, and is closely related to geographical distribution of populations.

Key words: forensic genetics, forensic anthropology, phenotype, pigment, language family