贵州穿青人微单倍型遗传背景分析与法医学效能评估

doi:10.12122/j.issn.1673-4254.2025.07.10

南方医科大学学报 ›› 2025, Vol. 45 ›› Issue (7): 1442-1450.doi: 10.12122/j.issn.1673-4254.2025.07.10

贵州穿青人微单倍型遗传背景分析与法医学效能评估

张红玲(), 谷长云(), 王启燕, 黄晓岚, 冉乾冲, 任峥, 刘玉波, 罗艳莎, 潘帅吉, 杨美庆, 季晶焱, 靳小业()

贵州医科大学法医学院，贵州贵阳 550025

收稿日期:2025-03-25 出版日期:2025-07-20 发布日期:2025-07-17
通讯作者: 靳小业 E-mail:229598103@qq.com;15060315252@qq.com;1115259825@qq.com
作者简介:张红玲，副教授，硕士生导师，E-mail: 229598103@qq.com
谷长云，硕士研究生，E-mail: 15060315252@qq.com
第一联系人：张红玲、谷长云共同为第一作者
基金资助:
国家自然科学基金(82160324);贵州省科技计划项目（ZK[2024],162,ZK[2022],355）;贵州医科大学国家自然科学基金培育项目(21NSFCP02);贵州省大学生创新创业训练计划项目(S202310660094);贵州省研究生科研基金项目(2024YJSKYJJ294)

Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel

Hongling ZHANG(), Changyun GU(), Qiyan WANG, Xiaolan HUANG, Qianchong RAN, Zheng REN, Yubo LIU, Yansha LUO, Shuaiji PAN, Meiqing YANG, Jingyan JI, Xiaoye JIN()

Department of Forensic Medicine, Guizhou Medical University, Guiyang 550025, China

Received:2025-03-25 Online:2025-07-20 Published:2025-07-17
Contact: Xiaoye JIN E-mail:229598103@qq.com;15060315252@qq.com;1115259825@qq.com
Supported by:
National Natural Science Foundation of China(82160324)

摘要/Abstract

摘要：

目的评估一组微单倍型位点在贵州穿青人中的法医学应用效能，并基于既往报道的数据探讨穿青人与周边族群的遗传关系。方法基于自主研发的一个微单倍型分型检测体系，对贵州穿青人进行检测分析，评估微单倍型位点在穿青人中的遗传分布和法医学应用效能。基于不同洲际群体以及既往报道的贵州汉族群体的微单倍型数据，采用遗传距离、主成分分析（PCA）、系统发育树等群体遗传分析方法系统探讨穿青人的遗传背景。结果在穿青人群中，33个微单倍型位点的单倍型数为6~25个，平均期望杂合度（He）、观测杂合度（Ho）、个体识别能力（PD）和非父排除概率（PE）分别是0.8291、0.8301、0.9387和0.6593。33个位点的累积个体识别能力（CPD）和累积非父排除概率（CPE）分别是1-2.62×10⁻⁴¹和1-7.64×10⁻¹⁷。群体遗传分析结果表明，穿青人与东亚人群具有密切的遗传相关性，尤其和贵州本地汉族、中国南方汉族和北京汉族。结论 33个微单倍型在贵州穿青人群中表现出高度的遗传多态性，可作为一个高效的工具用于穿青人的法医学个人识别和亲缘鉴识研究。此外，汉族群体可能在穿青人的形成与发展过程中贡献了主要的遗传成分。

关键词: 穿青人, 微单倍型, 遗传结构, 法医学效能

Abstract:

Objective To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. Methods Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. Results Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. Conclusion The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.

Key words: Chuanqing population, microhaplotype, genetic structure, forensic performance

张红玲, 谷长云, 王启燕, 黄晓岚, 冉乾冲, 任峥, 刘玉波, 罗艳莎, 潘帅吉, 杨美庆, 季晶焱, 靳小业. 贵州穿青人微单倍型遗传背景分析与法医学效能评估[J]. 南方医科大学学报, 2025, 45(7): 1442-1450.

Hongling ZHANG, Changyun GU, Qiyan WANG, Xiaolan HUANG, Qianchong RAN, Zheng REN, Yubo LIU, Yansha LUO, Shuaiji PAN, Meiqing YANG, Jingyan JI, Xiaoye JIN. Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel[J]. Journal of Southern Medical University, 2025, 45(7): 1442-1450.

图/表 8

图1 33个微单倍型位点在贵州穿青人群中的单倍型频率分布

Fig.1 Haplotype frequencies of 33 microhaplotype loci in Guizhou Chuanqing population.

图2 33个微单倍型位点在贵州穿青人群中的法医学参数

Fig.2 Forensic parameters of 33 microhaplotype loci in Guizhou Chuanqing population.

图3 贵州穿青人与参考群体的遗传距离热图

Fig.3 Heatmap of genetic distance metrics: Fst (A) and DA (B) between Guizhou Chuanqing population and the reference groups.

图4 贵州穿青人与参考群体的主成分分析

Fig.4 Principal component analysis of Guizhou Chuanqing population and the reference groups.

图5 贵州穿青人与参考群体的多维尺度分析

Fig.5 Multidimensional scaling analysis of Chuanqing people and the reference populations.

图6 贵州穿青人与参考人群的系统发育树

Fig.6 Neighbor-joining phylogenetic tree between the Chuanqing population and the reference groups.

图7 穿青人与参考群体的遗传结构分析

Fig.7 Genetic structure analysis of Chuanqing and the reference populations. A: Population genetic structure under different K values. B: Mean LnP(K) values across different K values. C: Genetic component dissection of Chuanqing and the reference populations at K=4.

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贵州穿青人微单倍型遗传背景分析与法医学效能评估

Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel

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