Pigmentation Phenotype Prediction of Chinese Populations from Different Language Families.
PMID: 31833288 DOI: 10.12116/j.issn.1004-5619.2019.05.008.
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.
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。.
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