遗传 ›› 2024, Vol. 46 ›› Issue (2): 149-167.doi: 10.16288/j.yczz.23-260
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(
)
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: 基金资助:
Xin Zhu1,2(), Xin Jin3, Jun Liu2,4, Lan Yang2,4, Lixin Zou2,5, Caixia Li1,2, Jiang Huang1(
), Li Jiang2(
)
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:
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。
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.
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[ | ||
3 | 北京汉族 | 114 | 研究人群 | 文献[ | ||
4 | 山西汉族 | 99 | 研究人群 | 文献[ | ||
5 | 山东汉族 | 96 | 研究人群 | 文献[ | ||
6 | 河南汉族 | 199 | 研究人群 | 文献[ | ||
7 | 江西汉族 | 110 | 研究人群 | 文献[ | ||
8 | 湖南汉族 | 106 | 研究人群 | 文献[ | ||
9 | 福建汉族 | 124 | 研究人群 | 文献[ | ||
10 | 浙江汉族 | 97 | 研究人群 | 文献[ | ||
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[ | ||
15 | 广西汉族 | 113 | 研究人群 | 文献[ | ||
16 | 海南汉族 | 200 | 研究人群 | 文献[ | ||
17 | 新疆回族 | 49 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
18 | 青海回族 | 69 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
19 | 甘肃回族 | 167 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
20 | 宁夏回族 | 85 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
21 | 陕西回族 | 84 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
22 | 河南回族 | 67 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
23 | 山东回族 | 48 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
24 | 四川回族 | 38 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
25 | 云南回族 | 43 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
26 | 藏缅语族 | 四川甘孜藏族 | 88 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | |
27 | 青海藏族1 | 82 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
28 | 西藏藏族 | 251 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
29 | 四川阿坝藏族 | 68 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
30 | 四川美姑彝族 | 222 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
31 | 四川昭觉彝族 | 205 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
32 | 四川北川羌族 | 422 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
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[ |
34 | 内蒙古呼伦贝尔蒙古族 | 217 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
35 | 内蒙古鄂尔多斯蒙古族 | 199 | 60Y-SNP数据集,16Y-STR数据集 | 文献[ | ||
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[ | |
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[ |
38 | 仡央语族 | 贵州遵义仡佬族 | 68 | 60Y-SNP数据集 | 文献[ | |
39 | 汉藏语系 | 汉语族 | 四川成都汉族 | 2228 | 16Y-STR数据集 | 文献[ |
40 | 福建汉族2 | 50 | 16Y-STR数据集 | 文献[ | ||
41 | 台湾汉族 | 93 | 16Y-STR数据集 | 文献[ | ||
42 | 上海崇明岛汉族 | 527 | 16Y-STR数据集 | 文献[ | ||
43 | 上海浦东汉族 | 689 | 16Y-STR数据集 | 文献[ | ||
44 | 山东汉族2 | 303 | 16Y-STR数据集 | 文献[ | ||
45 | 云南汉族 | 540 | 16Y-STR数据集 | 文献[ | ||
46 | 藏缅语族 | 青海藏族2 | 163 | 16Y-STR数据集 | 文献[ | |
47 | 侗台语系 | 壮傣语族 | 广西壮族 | 201 | 16Y-STR数据集 | 文献[ |
表2
基于16个Y-STR基因座的汉族人群法医学参数"
地区 | 样本量 | 人群 | 观察到的单倍型数量 | |||
---|---|---|---|---|---|---|
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 |
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