Institute of Forensic Medicine, West China School of Basic Sciences and Forensic Medicine, Sichuan University, Chengdu, China.
Institute of Forensic Medicine and Laboratory Medicine, Jining Medical University, Jining, China.
Forensic Sci Int Genet. 2019 Jul;41:11-18. doi: 10.1016/j.fsigen.2019.03.022. Epub 2019 Mar 25.
The Hui group is the second largest ethnic minority and one of the most widespread ethnic groups in China. However, the genetic architecture of the Hui population remains largely unexplored, particularly with respect to the male-specific region of the Y chromosome. Here, we studied nine Hui populations (Xinjiang, Qinghai, Gansu, Ningxia, Shaanxi, Henan, Shandong, Sichuan, Yunnan) using 157 Y-chromosome single nucleotide polymorphisms (Y-SNPs) and 27 short tandem repeats (Y-STRs) to unravel their genetic substructure and forensic characteristics. A total of 650 unrelated male samples from the Hui populations were genotyped by SNaPshot, a single base extension (SBE) assay. Finally, 95 terminal haplogroups and high haplotype diversity (0.9999) were observed in Hui populations. Frequency heat map matrices, genetic distance (F) and network analysis within Hui populations indicated that these nine Hui populations can be divided into three groups: Hui populations from the northwest (NWH), Hui populations from Sichuan and Shandong (SSH), and Hui populations from Yunnan (YNH). Our results suggested that we should use different databases for different Hui samples in forensic cases. Comparison with other populations that used different population genetic analysis revealed that the Hui populations had close relationships with East Asian populations, especially Chinese Han population. Overall, the high-resolution panel with Y-SNPs and Y-STRs gives new and complete insight into Hui populations, which can be used to interpret the genetic substructure of Hui populations and affect the utility of forensic databases.
回族是中国第二大少数民族，也是分布最广的少数民族之一。然而，回族群体的遗传结构在很大程度上仍未得到探索，特别是在 Y 染色体的男性特异性区域。在这里，我们使用 157 个 Y 染色体单核苷酸多态性（Y-SNPs）和 27 个短串联重复（Y-STRs）研究了 9 个回族群体（新疆、青海、甘肃、宁夏、陕西、河南、山东、四川、云南），以揭示它们的遗传亚结构和法医学特征。总共对来自回族的 650 个无关男性样本进行了 SNaPshot 分型，这是一种单碱基延伸（SBE）检测。最终，在回族群体中观察到 95 个末端单倍群和高单倍型多样性（0.9999）。频率热图矩阵、遗传距离（F）和回族群体内的网络分析表明，这 9 个回族群体可以分为三组：来自西北的回族（NWH）、来自四川和山东的回族（SSH）和来自云南的回族（YNH）。我们的结果表明，在法医学案例中，我们应该针对不同的回族样本使用不同的数据库。与使用不同群体遗传学分析的其他群体进行比较表明，回族与东亚群体，特别是中国汉族群体关系密切。总体而言，Y-SNPs 和 Y-STRs 的高分辨率面板为回族群体提供了新的、完整的见解，可以用于解释回族群体的遗传亚结构，并影响法医数据库的使用。
