Institute of Forensic Science, Dalian Blood Center, Liaoning, China.
BMC Genomics. 2023 Sep 28;24(1):578. doi: 10.1186/s12864-023-09636-3.
Y-STR polymorphisms are useful in tracing genealogy and understanding human origins and migration history. This study aimed to fill a knowledge gap in the genetic diversity, structure, and haplogroup distribution of the Han and Manchu populations from the three northeastern provinces in China (Liaoning, Jilin, and Heilongjiang).
A total of 1,048 blood samples were collected from unrelated males residing in Dalian. Genotyping was performed using the AGCU Y37 + 5 Amplification Kit, and the genotype data were analyzed to determine allele and haplotype frequencies, genetic and haplotype diversity, discrimination capacity, and haplotype match probability. Population pairwise genetic distances (F) were calculated to compare the genetic relationships among Han and Manchu populations from Northeast China and other 23 populations using 27 Yfiler Plus loci set. Multi-dimensional scaling and phylogenetic analysis were employed to visualize the genetic relationships among the 27 populations. Moreover, haplogroups were predicted based on 27 Yfiler Plus loci set.
The Han populations from Northeast China exhibited genetic affinities with both Han populations from the Central Plain and the Sichuan Qiang population, despite considerable geographical distances. Conversely, the Manchu population displayed a relatively large genetic distance from other populations. The haplogroup analysis revealed the prevalence of haplogroups E1b1b, O1b, O2, and Q in the studied populations, with variations observed among different ethnic groups.
The study contributes to our understanding of genetic diversity and history of the Han and Manchu populations in Northeast China, the genetic relationships between populations, and the intricate processes of migration, intermarriage, and cultural integration that have shaped the region's genetic landscape.
Y 染色体 STR 多态性在谱系追踪和了解人类起源和迁移历史方面具有重要意义。本研究旨在填补中国东北三省（辽宁、吉林和黑龙江）汉族和满族人群遗传多样性、结构和单倍群分布知识空白。
共采集了 1048 名居住在大连的无关男性的血液样本。使用 AGCU Y37 + 5 扩增试剂盒进行基因分型，分析基因型数据以确定等位基因和单倍型频率、遗传和单倍型多样性、鉴别能力和单倍型匹配概率。计算人群间遗传距离（F），以比较中国东北汉族和满族人群与其他 23 个人群的遗传关系，使用 27 Yfiler Plus 位点集。采用多维尺度分析和系统发生分析来可视化 27 个人群的遗传关系。此外，基于 27 Yfiler Plus 位点集预测单倍群。
尽管地理距离较远，但中国东北的汉族人群与中原汉族人群和四川羌族人群具有遗传亲缘关系。相比之下，满族人群与其他人群的遗传距离相对较大。单倍群分析显示，研究人群中流行的单倍群有 E1b1b、O1b、O2 和 Q，不同民族之间存在差异。
本研究有助于了解中国东北汉族和满族人群的遗传多样性和历史、人群间的遗传关系，以及塑造该地区遗传景观的迁移、通婚和文化融合等复杂过程。
