基于Y-SNP和Y-STR揭示汉族人群父系遗传关系

doi:10.16288/j.yczz.23-260

遗传 ›› 2024, Vol. 46 ›› Issue (2): 149-167.doi: 10.16288/j.yczz.23-260

基于Y-SNP和Y-STR揭示汉族人群父系遗传关系

朱信^1,²(), 金鑫³, 刘俊^2,⁴, 杨澜^2,⁴, 邹丽馨^2,⁵, 李彩霞^1,², 黄江¹(), 江丽²()

1.贵州医科大学法医学院，贵阳 550004
2.公安部鉴定中心，北京市现场物证检验工程技术研究中心，现场物证溯源技术国家工程实验室，北京 100038
3.海南省公安厅，海口 570203
4.山西医科大学，太原 030001
5.江苏师范大学，徐州 221116

收稿日期:2023-12-11 修回日期:2024-01-24 出版日期:2024-02-20 发布日期:2024-01-26
通讯作者: 黄江,江丽 E-mail:1987538437@qq.com;mmm_hj@gmc.edu.cn;jl@mail.bnu.edu.cn
作者简介:朱信，硕士研究生，专业方向：法医物证学。E-mail: 1987538437@qq.com.
基金资助:
国家重点研发计划项目(2022YFC3341004);国家自然科学基金项目(82171870);公安部鉴定中心基本科研业务费专项资金项目(2022JB020);现场物证溯源技术国家工程实验室开放课题(2021FGKFKT01)

Paternal genetic structure analysis of the modern Han populations based on Y-SNP and Y-STR

Xin Zhu^1,²(), Xin Jin³, Jun Liu^2,⁴, Lan Yang^2,⁴, Lixin Zou^2,⁵, Caixia Li^1,², Jiang Huang¹(), Li Jiang²()

1. Institute of Forensic Medicine, Guizhou Medical University, Guiyang 550004, China
2. Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beijing 100038, China
3. Public Security Department of Hainan Province, Haikou 570203, China
4. Shanxi Medical University, Taiyuan 030001, China
5. Jiangsu Normal University, Xuzhou 221116, China

Received:2023-12-11 Revised:2024-01-24 Published:2024-02-20 Online:2024-01-26
Contact: Jiang Huang,Li Jiang E-mail:1987538437@qq.com;mmm_hj@gmc.edu.cn;jl@mail.bnu.edu.cn
Supported by:
National Key R&D Program of China(2022YFC3341004);National Natural Science Foundation of China(82171870);Fundamental Research Funds for Institute of Forensic Science(2022JB020);Open Project of the National Engineering Laboratory for Forensic Science(2021FGKFKT01)

摘要/Abstract

摘要：

汉族是中国人口最多的民族，现有研究多集中于汉族人群的起源、迁徙、融合等遗传历史，以及局部地区汉族人群的父系遗传关系，鲜有全局视角下的汉族人群父系遗传结构研究。本研究检测了362份青海、四川和辽宁的汉族无关男性样本，整合已发表文献相关数据，最终获得了国内15个省份16个汉族人群1830人份样本，覆盖89个Y-SNP、16个Y-STR的数据。通过统计Y-SNP单倍群频率、Y-STR单倍型多样性，使用主成分分析(principal component analysis, PCA)、系统发育树、单倍型网络等分析，综合Y-SNP和Y-STR两个反映不同时间尺度的遗传标记，研究不同地区汉族人群之间的遗传分化、汉族人群与其周边少数民族的遗传关系。单倍群频率统计结果显示单倍群O-M175是汉族人群主体单倍群(青海汉族60.53%~广东汉族92.7%)，其下游亚单倍群呈现地域差异化分布。单倍群O2-M122高频分布于各地汉族，总体分布趋势北高南低；单倍群O1b-M268分布频率由南向北递减，尤其在岭南地区汉族人群中分布显著；单倍群O1a-M119在中部汉族人群中分布频率较高。汉族人群遗传结构研究表明，其主要分为北部、中部及南部三个聚类簇，其中青海汉族与其他地区汉族存在一定的遗传分化。在合并少数民族的遗传关系研究中，汉族人群彼此之间遗传关系更紧密，但北部汉族与回族遗传关系更近，而南部汉族则与仡佬族、黎族遗传关系更近。总之，本文基于89个Y-SNP和16个Y-STR，系统地研究了中国不同地域的汉族人群的单倍群分布、遗传亚结构及其与周边少数民族的遗传关系，为群体遗传学、法医遗传学补充理论依据，为Y染色体的法医学应用提供数据支撑。Y-SNP单倍群结合Y-STR单倍型对于分析汉族人群遗传亚结构以及法医学应用具有重要作用。

关键词: 群体遗传学, 法医遗传学, Y-SNP, Y-STR

Abstract:

The Han populations represent the largest ethnic group in China. Previous studies have primarily focused on investigating their genetic origins, migration and integration, as well as paternal genetic relationships within specific regional Han populations. However, a comprehensive analysis of the global paternal genetic structure of Han populations is lacking. In this study, we performed Y-chromosome sequencing on 362 unrelated male samples from Chinese Han individuals collected from Qinghai, Sichuan and Liaoning provinces. We then integrated relevant data from reported studies. Our final dataset comprised 1830 samples from 16 Han populations across 15 provinces in China, encompassing information on 89 Y-SNPs and 16 Y-STRs. Statistical analyses were conducted to assess Y-STR haplotype diversity (HD) and Y-SNP haplogroup frequencies. Additionally, we employed principal component analysis (PCA), phylogenetic tree and haplotype network to explore genetic differentiation within Han populations and the genetic relationships between Han populations and ethnic minorities surrounding them. Our results demonstrated that the O-M175 haplogroup represents the predominant paternal lineage in Han populations, with frequencies ranging from 60.53% (Qinghai Han) to 92.7% (Guangdong Han). Moreover, the subclades downstream of O-M175 showed distinct regional variations in their distribution patterns. The O2-M122 haplogroup was prevalent in all Han populations and demonstrated a gradual decline in frequency from north to south. Conversely, the distribution frequency of the O1b-M268 haplogroup decreased from south to north, particularly showed significant presence among Han populations in the Lingnan region. Haplogroup O1a-M119 distributed more frequently in the central Han populations. Our findings revealed that Chinese Han populations can be categorized into three subgroups: northern, central, and southern. Notably, there were significant differences among Han in Qinghai and other regions. Regarding the genetic relationships between Han populations and surrounding ethnic minorities, we observed a closer genetic affinity between different Han populations, but northern Han demonstrated a stronger relationship with the Hui ethnic group, while southern Han exhibited a closer connection with the Gelao and Li ethnic groups. In summary, this study presented a systematic analysis of haplogroup distribution, genetic substructure of Han populations and genetic relationships between Han populations and surrounding ethnic minorities based on 89 Y-SNPs and 16 Y-STRs systematically. Our research supplemented valuable insights into population genetics and forensic genetics, and provided data support for the forensic application of Y chromosome. The integration of Y-SNP haplogroups with Y-STR haplotypes offers enhanced understanding of the genetic substructure within Han populations, which holds significance for both population genetics research and forensic science applications.

Key words: population genetics, forensic genetics, Y-SNP, Y-STR

朱信, 金鑫, 刘俊, 杨澜, 邹丽馨, 李彩霞, 黄江, 江丽. 基于Y-SNP和Y-STR揭示汉族人群父系遗传关系[J]. 遗传, 2024, 46(2): 149-167.

Xin Zhu, Xin Jin, Jun Liu, Lan Yang, Lixin Zou, Caixia Li, Jiang Huang, Li Jiang. Paternal genetic structure analysis of the modern Han populations based on Y-SNP and Y-STR[J]. Hereditas(Beijing), 2024, 46(2): 149-167.

图/表 7

表1

中国人群信息列表"

序号	语系	语族	群体	样本量	数据集	来源
1	汉藏语系	汉语族	辽宁铁岭汉族	80	研究人群	自检
2			黑龙江汉族	94	研究人群	文献[33]
3			北京汉族	114	研究人群	文献[33]
4			山西汉族	99	研究人群	文献[33]
5			山东汉族	96	研究人群	文献[33]
6			河南汉族	199	研究人群	文献[33]
7			江西汉族	110	研究人群	文献[33]
8			湖南汉族	106	研究人群	文献[33]
9			福建汉族	124	研究人群	文献[33]
10			浙江汉族	97	研究人群	文献[33]
11			青海汉族	114	研究人群	自检
12			四川阿坝汉族	76	研究人群	自检
13			四川甘孜汉族	91	研究人群	自检
14			广东汉族	117	研究人群	文献[33]
15			广西汉族	113	研究人群	文献[33]
16			海南汉族	200	研究人群	文献[42]
17			新疆回族	49	60Y-SNP数据集，16Y-STR数据集	文献[22]
18			青海回族	69	60Y-SNP数据集，16Y-STR数据集	文献[22]
19			甘肃回族	167	60Y-SNP数据集，16Y-STR数据集	文献[22]
20			宁夏回族	85	60Y-SNP数据集，16Y-STR数据集	文献[22]
21			陕西回族	84	60Y-SNP数据集，16Y-STR数据集	文献[22]
22			河南回族	67	60Y-SNP数据集，16Y-STR数据集	文献[22]
23			山东回族	48	60Y-SNP数据集，16Y-STR数据集	文献[22]
24			四川回族	38	60Y-SNP数据集，16Y-STR数据集	文献[22]
25			云南回族	43	60Y-SNP数据集，16Y-STR数据集	文献[22]
26		藏缅语族	四川甘孜藏族	88	60Y-SNP数据集，16Y-STR数据集	文献[48]
27			青海藏族1	82	60Y-SNP数据集，16Y-STR数据集	文献[48]
28			西藏藏族	251	60Y-SNP数据集，16Y-STR数据集	文献[48]
29			四川阿坝藏族	68	60Y-SNP数据集，16Y-STR数据集	文献[48]
30			四川美姑彝族	222	60Y-SNP数据集，16Y-STR数据集	文献[46]
31			四川昭觉彝族	205	60Y-SNP数据集，16Y-STR数据集	文献[46]
32			四川北川羌族	422	60Y-SNP数据集，16Y-STR数据集	文献[45]
33	阿尔泰语系	蒙古语族	内蒙古呼和浩特蒙古族	228	60Y-SNP数据集，16Y-STR数据集	文献[44]
34			内蒙古呼伦贝尔蒙古族	217	60Y-SNP数据集，16Y-STR数据集	文献[44]
35			内蒙古鄂尔多斯蒙古族	199	60Y-SNP数据集，16Y-STR数据集	文献[44]
36		突厥语族	新疆柯尔克孜族	297	60Y-SNP数据集，16Y-STR数据集	文献[43]
37	侗台语系	侗水语族	海南黎族	102	60Y-SNP数据集，16Y-STR数据集	文献[42]
38	侗台语系	仡央语族	贵州遵义仡佬族	68	60Y-SNP数据集	文献[49]
39	汉藏语系	汉语族	四川成都汉族	2228	16Y-STR数据集	文献[51]
40			福建汉族2	50	16Y-STR数据集	文献[50]
41			台湾汉族	93	16Y-STR数据集	文献[50]
42			上海崇明岛汉族	527	16Y-STR数据集	文献[40]
43			上海浦东汉族	689	16Y-STR数据集	文献[40]
44			山东汉族2	303	16Y-STR数据集	文献[39]
45			云南汉族	540	16Y-STR数据集	文献[39]
46		藏缅语族	青海藏族2	163	16Y-STR数据集	文献[52]
47	侗台语系	壮傣语族	广西壮族	201	16Y-STR数据集	文献[47]

表1

图1

表2

图2

图3

图4

图5

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地区	样本量	人群	观察到的单倍型数量
地区	样本量	人群	单倍型数	MP	HD	DC
中国北部	114	北京汉族	113	0.00908	0.99968	0.99123
	94	黑龙江汉族	94	0.01064	1	1
	80	辽宁铁岭汉族	80	0.01250	1	1
	199	河南汉族	195	0.00544	0.99958	0.97990
	96	山东汉族	95	0.01086	0.99955	0.98958
	99	山西汉族	99	0.01010	1	1
中国西部	114	青海汉族	113	0.00932	0.99937	0.98261
	76	四川阿坝汉族	75	0.01387	0.99928	0.98684
	91	四川甘孜汉族	88	0.01214	0.99896	0.97778
中国中部	106	湖南汉族	104	0.01017	0.99926	0.98113
	110	江西汉族	108	0.00977	0.99931	0.98182
	97	浙江汉族	95	0.01119	0.99911	0.97938
	124	福建汉族	116	0.01040	0.99764	0.93548
中国南部	117	广东汉族	115	0.00915	0.99939	0.98291
	113	广西汉族	110	0.00983	0.99901	0.97345
	200	海南汉族	195	0.00552	0.99947	0.97500

基于Y-SNP和Y-STR揭示汉族人群父系遗传关系

Paternal genetic structure analysis of the modern Han populations based on Y-SNP and Y-STR

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