Forensic characteristics and genetic analysis of both 27 Y-STRs and 143 Y-SNPs in Eastern Han Chinese population
Forensic characteristics and genetic analysis of both 27 Y-STRs and 143 Y-SNPs in Eastern Han Chinese population
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东汉人群27个Y-STR和143个Y-SNP的法医特征及遗传分析
DOI：
10.1016/j.fsigen.2019.07.011
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发表时间：
2019-09-01
影响因子：
3.1
通讯作者：
Hou, Yiping
中科院分区：
文献类型：
--
作者：
Lang, Min;Liu, Hai;Hou, Yiping
Y染色体短串联重复序列（Y-STR）和Y染色体单核苷酸多态性（Y-SNP）的频率分布为评估世界范围内的男性群体分层提供了资源。目前，Y-STR单倍型参考数据库（YHRD）包含来自世界各地不同人群和国家的许多Y染色体单倍型谱。然而，对于许多最近发现的和已经遗传定位的Y-SNPs，人口数据是稀缺的。本研究对11个汉族群体的1269名无关男性进行了27个Y-STR（YfilerPlus）和143个Y-SNP（自行设计的Y-SNP panel）的分型。单倍群O-M175是中国汉族人群中最主要的单倍群，其分布范围为67.34%（河南汉族）至93.16%（广东汉族）。黑龙江汉族群体的单倍群多样性最高（0.967056），区分能力（DC）值为0.3723。DYS 391（广东汉族）的单拷贝等位基因数为2个，DYS 518（河南汉族）的单拷贝等位基因数为16个。对于大多数群体（8/11），单倍型多样性和DC值均为1.0000。此外，还观察到北方汉族与南方汉族之间的遗传分化。这些遗传差异主要体现在单倍型群分布和频率上，并经统计学分析得到证实。
Y-chromosome short tandem repeat (Y-STR) and Y-chromosome single nucleotide polymorphism (Y-SNP) frequency distributions provide resources for assessment of male population stratification among world-wide populations. Currently, the Y-STR Haplotype Reference Database (YHRD) contains numerous Y-chromosome haplotype profiles from various populations and countries around the world. However, for many of the recently discovered and already phylogenetically mapped Y-SNPs, the population data are scarce. Herein, the typing of 27 Y-STRs (Yfiler Plus) and 143 Y-SNPs (self-designed Y-SNP panel) was performed on 1269 unrelated males from 11 Han Chinese populations. Haplogroup O-M175 was the most predominant haplogroup in our Han Chinese data, ranging from 67.34% (Henan Han) to 93.16% (Guangdong Han). The highest haplogroup diversity (0.967056) was observed in Heilongjiang Han, with a discrimination capacity (DC) value of 0.3723. The number of alleles at single-copy loci varied from 2 for DYS391 (Guangdong Han) to 16 for DYS518 (Henan Han). For the majority of the populations (8/11), both the haplotype diversity and DC values are 1.0000. Furthermore, genetic differentiations were observed between Northern and Southern Han Chinese. These genetic differences were mainly reflected in haplogroup distribution and frequency, and they were confirmed by statistical analysis.