线粒体DNA基因组揭示的白马人群的遗传结构  

The genetic structure of the Baima population revealed by mitochondrial DNA genomes

作　　者：毛乙臻 王飞 刘雨佳 陈紫薇 张金柠 杨亚军[1] 郑鸿翔 MAO Yi Zhen;WANG Fei;LIU YuJia;CHEN ZiWei;ZHANG JinNing;YANG YaJun;ZHENG HongXiang(Ministry of Education Key Laboratory of Contemporary Anthropology,State Key Laboratory of Genetic Engineering,School of Life Sciences,Fudan University,Shanghai 200438,China)

机构地区：[1]复旦大学生命科学学院,遗传工程国家重点实验室,现代人类学教育部重点实验室,上海200438

出　　处：《中国科学:生命科学》2025年第1期153-167,共15页Scientia Sinica(Vitae)

基　　金：国家自然科学基金(批准号:32270670);国家重点研发计划(批准号:2022YFC3321200,2022YFC3321201)资助。

摘　　要：白马人是中国最古老的人群之一,尽管历史和文化等方面的研究提示了白马人与青藏高原相关人群之间的紧密联系,但是遗传学证据仍然缺乏.本研究采集49例白马人样本并进行线粒体DNA基因组测序.同时,本文额外整合95个人群总计5676个亚洲个体的线粒体DNA单倍群数据进行主成分分析,发现白马人与青藏高原相关人群最为接近,提示白马人与青藏高原相关人群相近的遗传关系.随后,本研究对白马人群、青藏高原相关人群和汉族共18个人群进行序列多态性分析,发现白马人群的遗传多样性最低,且远远低于青藏高原相关人群和汉族.同时,本研究挑选出白马人中6个主要的亚单倍群(频率>4%),分别为A21,D4j1a1,D4b2b+T3398C+A390G+A15613G,M9a1a2,M62b1a和D5b1b.本文对这6个单倍群构建进化网络,并估计最近共祖时间.研究发现白马人群的6个主要单倍群中有3个单倍群与青藏高原人群特异支系相关,同时这6个主要单倍群中的4个单倍群都起源于新石器时期及之后时期.综上所述,本文推测白马人群与青藏高原相关人群关系密切,且白马人群的主体形成可能与新石器时期农业发展后青藏高原以及周边区域更为频繁的人群活动相关.The Baima is one of the oldest Chinese ethnic populations.Lines of historical and cultural evidence indicated close relationships between the Baima population and Tibetan Plateau related populations,however,there was little investigation on genetics.In this study,we collected 49 individuals from the Baima population and sequenced the mitochondrial DNA genomes.We conducted principal component analysis of the mitochondrial DNA haplogroup data of a total of 5676 individuals from 95 Asian populations,including the Baima population.As a result,the Baima population was closest to the Tibetan Plateau related populations,indicating a close genetic relationship between the Baima population and the Tibetan Plateau related populations.Subsequent analysis of sequence polymorphism across 18 populations(including Baima,Tibetan Plateau related populations and Han Chinese)showed the lowest genetic diversity in the Baima population,which is significantly lower than those of Tibetan Plateau related populations and Han Chinese.In addition,we identified six major sub-haplogroups(frequency>4%)among the Baima people(A21,D4j1a1,D4b2b+T3398C+A390G+A15613G,M9a1a2,M62b1a,and D5b1b).We constructed median-joining networks and estimated the coalescence times of the most recent common ancestors of these six haplogroups.We found that three out of six principal haplogroups of the Baima showed a close genetic relationship with specific lineages of Tibetan Plateau related populations,and four of the six major haplogroups originated after the advent of the Neolithic.Thus,we concluded that the Baima population has a close relationship with the Tibetan Plateau related populations and the formation of the Baima population may be associated with the development of agriculture after the advent of the Neolithic due to the increased human activity on the Tibetan Plateau and in the surrounding areas.

关 键 词：白马人 东亚人群 人类进化遗传学 线粒体DNA 

分 类 号：Q987[生物学—遗传学]