中国西南地区藏族人群遗传亚结构研究

doi:10.16288/j.yczz.19-330

遗传 ›› 2020, Vol. 42 ›› Issue (6): 565-576.doi: 10.16288/j.yczz.19-330

中国西南地区藏族人群遗传亚结构研究

王小娟^1,², 钱恩芳¹, 李悦², 宋正阳^1,², 赵慧², 谢何鑫², 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. 公安部物证鉴定中心,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

收稿日期:2019-12-26 修回日期:2020-04-14 出版日期:2020-06-20 发布日期:2020-04-17
作者简介:王小娟,硕士研究生,专业方向：法医物证学。E-mail:757164796@qq.com
基金资助:
国家自然科学基金项目编号(81772027);国家重点研发计划项目编号(2017YFC0803501);公安部物证鉴定中心基本科研业务费专项资金项目编号(2017JB025);国家科技资源共享服务平台计划项目资助编号(YCZYPT[2017]01-3)

A genetic sub-structure study of the Tibetan population in Southwest China

Xiaojuan Wang^1,², Enfang Qian¹, Yue Li², Zhengyang Song^1,², Hui Zhao², Hexin Xie², Caixia Li^1,², Jiang Huang¹, Li Jiang²

^1. Institute of Forensic Medicine, Guizhou Medical University, Guiyang 550004, China
^2. Institute of Forensic Science, Ministry of Public Security & Beijing Engineering Research Center of Crime Scene Evidence Examination & National Engineering Laboratory for Forensic Science, Beijing 100038, China;

Received:2019-12-26 Revised:2020-04-14 Online:2020-06-20 Published:2020-04-17
Supported by:
Supported by the National Natural Science Foundation of China No(81772027);the National Key R&D Program of China No(2017YFC0803501);the Fundamental Research Funds for Institute of Forensic Science No(2017JB025);the National Science and Technological Resources Platform No(YCZYPT[2017]01-3)

摘要/Abstract

摘要：

藏族为中国西南地区典型的少数民族,分为卫藏、康巴、安多和嘉绒等多个支系。然而,对藏族支系人群的遗传结构,特别是各分支人群的父系、母系遗传结构却缺乏深度解析。本研究基于个体水平的常染色体、父系来源的Y染色体和母系来源的线粒体3个类别遗传信息,对西藏地区卫藏藏族、四川甘孜地区康巴藏族、青海地区安多藏族和四川阿坝地区嘉绒藏族共4个藏族群体进行研究,以揭示其遗传亚结构关系。采用微测序技术检测各位点分型,利用PowerPlex ^?Y23和DNATyper ^TM Y26试剂盒检测Y-STRs基因座分型,通过热图和主成分分析、祖先成分分析、单倍群频率统计、网络图及多维尺度分析等探讨其遗传亚结构。结果表明,常染色体和Y染色体遗传标记可将4个藏族人群分为3类：青藏高原的卫藏藏族为一类,高原周边地区的康巴藏族和安多藏族的遗传结构类似分为一类,“藏彝走廊”中嘉绒藏族的遗传结构与其他藏族人群差异显著而为一类。不同藏族分支人群在线粒体遗传信息方面无明显差异性。上述多类别遗传信息的分析结果为深入了解藏族不同分支人群的遗传亚结构提供了新视角。

关键词: 群体遗传学, 藏族, 单倍型, 遗传亚结构

Abstract:

Tibetan is a typical ethnic minority population in Southwest China, which can be divided into U-Tsang, Kham, Amdo, Jiarong and other sub-populations. However, the genetic structure of these sub-populations has not been comprehensively analyzed, especially from the perspective of paternal and maternal lineages. Based on genetic markers of autosomes, the Y chromosome and mitochondria, we studied four Tibetan populations (the U-Tsang population in Tibet Autonomous Region; the Kham population in Garze, Sichuan province; the Amdo population in Qinghai province and the Jiarong population in Aba, Sichuan province) to interpret their genetic structure. The mini-sequencing technology was used to detect the genotype of each maker. Meanwhile, the PowerPlex ^?Y23 and DNA Typer ^TM Y26 kit were applied to genotype Y-STRs. Subsequently, the genetic structure was analyzed by heatmap and principal component analysis, ancestry component, haplogroup frequency, network map and multi-dimensional scaling analysis. The results showed that the four Tibetan populations could be divided into three sets based on the autosomal and Y-chromosomal genetic markers, in which set 1 was the U-Tsang population in the Tibetan Plateau, set 2 comprised of the Kham and Amdo populations in the surrounding areas of the plateau, and set 3 was the Jiarong population that resided in the Tibetan and Yi Corridor. No significant difference was observed in mitochondrial genetic markers among four Tibetan populations. In general, multi-category genetic information provides a new comprehensive insight into the Tibetan sub-population.

Key words: population genetics, Tibetan, haplotype, genetic sub-structure

王小娟, 钱恩芳, 李悦, 宋正阳, 赵慧, 谢何鑫, 李彩霞, 黄江, 江丽. 中国西南地区藏族人群遗传亚结构研究[J]. 遗传, 2020, 42(6): 565-576.

Xiaojuan Wang, Enfang Qian, Yue Li, Zhengyang Song, Hui Zhao, Hexin Xie, Caixia Li, Jiang Huang, Li Jiang. A genetic sub-structure study of the Tibetan population in Southwest China[J]. Hereditas(Beijing), 2020, 42(6): 565-576.

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序号	群体	所属支系	英文全称	英文简称	检测样本量(例)	海拔高度(m)
1	西藏藏族	卫藏	Chinese Tibetan in Tibetan Plateau	CTT	89	3650
2	四川甘孜藏族	康巴	Chinese Tibetan in Garze Sichuan, China	CTG	88	3300
3	青海藏族	安多	Chinese Tibetan in Qinghai, China	CTQ	82	2420
4	四川阿坝藏族	嘉绒	Chinese Tibetan in Aba Sichuan, China	CTA	38	2130

单倍群谱系树									西藏藏族 (CTT)		四川甘孜藏族 (CTG)		青海藏族 (CTQ)		四川阿坝藏族 (CTA)
单倍群谱系树									n	%	n	%	n	%	n	%
M168								CT	89	100	88	100	82	100	38	100
	M130							C	2	2.25	2	2.27	2	2.44	1	2.63
	M174							D	64	71.91	55	62.50	48	58.54	13	34.21
		M15						D1a1	16	17.98	14	15.91	8	9.76	10	26.32
		P99						D1a2	48	53.93	41	46.59	40	48.78	3	7.89
	M96							E	1	1.12	1	1.14	1	1.22
	M89							F	22	24.72	30	34.09	31	37.80	24	63.16
		M201						G					1	1.22
		M304						J					4	4.88
		M9						K	22	24.72	30	34.09	26	31.71	24	63.16
			M231					N	5	5.62	6	6.82	4	4.88
			M242					Q	2	2.25			1	1.22
			M207					R			1	1.14	5	6.10	1	2.63
			M175					O	15	16.85	23	26.14	16	19.51	23	60.53
				M122				O2	15	16.85	21	23.86	12	14.63	20	52.63
					M324			O2a	15	16.85	21	23.86	11	13.41	20	52.63
						L127.1		O2a1	1	1.12	3	3.41	5	6.10	5	13.16
						P201		O2a2	14	15.73	18	20.45	6	7.32	15	39.47
							M117	O2a2b1a1	12	13.48	10	11.36	4	4.88	8	21.05

单倍群谱系树							西藏藏族 (CTT)		四川甘孜藏族 (CTG)		青海藏族 (CTQ)		四川阿坝藏族 (CTA)
单倍群谱系树							n	%	n	%	n	%	n	%
A1018G						L3	88	100.00	87	100.00	79	100.00	37	100.00
	G10400A					M	59	67.05	54	62.07	48	60.76	21	56.76
			T4715C			M	59	67.05	54	62.07	48	60.76	21	56.76	M8	5	5.68	9	10.34	3	3.80	6	16.22
			A13263G			C	3	3.41	8	9.20	2	2.53	3	8.11
		G4491A				M9	19	21.59	13	14.94	11	13.92	1	2.70
			A3394G			M9a'b	16	18.18	9	10.34	8	10.13	1	2.70
				C7697T		M9a1a1c1b	11	12.50	5	5.75	2	2.53
		G14569A				M12'G	13	14.77	10	11.49	7	8.86	4	10.81
			A4833G			G	13	14.77	10	11.49	7	8.86	4	10.81
		T4561C				M62'68					1	1.27
			G2735A			M62					1	1.27
		C4883T				M80'D	15	17.05	19	21.84	24	30.38	9	24.32
			C5178A			D	15	17.05	19	21.84	24	30.38	9	24.32
				C3010T		D4	10	11.36	14	16.09	16	20.25	7	18.92
					C5262T	D4j1	4	4.55	3	3.45	2	2.53
	C10873T					N	29	32.95	33	37.93	31	39.24	16	43.24
		A663G				A	10	11.36	5	5.75	10	12.66	3	8.11
		T12705				R	19	21.59	26	29.89	21	26.58	12	32.43
					C10310T		19	21.59	26	29.89	21	26.58	12	32.43	F	11	12.50	14	16.09	10	12.66	3	8.11

基因座	权重	突变率	CTT	CTG	CTQ	CTA
DYS458	1	0.006	0.7750	0.7704	0.7943	0.8208
DYS392	1	0.001	0.6545	0.7348	0.7124	0.8350
DYS390	1	0.002	0.7421	0.7396	0.7185	0.6999
DYS389 II	2	0.004	0.6117	0.7565	0.7127	0.7112
DYS439	2	0.005	0.6411	0.6108	0.6960	0.7098
DYS389 I	2	0.003	0.6540	0.6742	0.6501	0.6316
DYS635	2	0.004	0.5924	0.6063	0.6308	0.7269
DYS448	2	0.002	0.5812	0.6074	0.6208	0.7226
DYS456	2	0.004	0.5687	0.5927	0.6399	0.6821
GATA-H4	3	0.003	0.5927	0.6408	0.5652	0.5576
DYS533	3	0.004	0.5457	0.5798	0.5815	0.5875
DYS393	4	0.001	0.4814	0.5154	0.5580	0.5349
DYS19	4	0.002	0.4990	0.5256	0.5363	0.5021
DYS438	5	0.001	0.3933	0.4762	0.5434	0.4964
DYS437	6	0.001	0.3202	0.3145	0.2906	0.5220
DYS391	6	0.002	0.2743	0.3195	0.2611	0.3514

中国西南地区藏族人群遗传亚结构研究

A genetic sub-structure study of the Tibetan population in Southwest China

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