摘要
中国是一个多民族的国家,东部地区的人口以汉族为主,但是西部地区人口的民族来源和组成则极其复杂。来自于欧亚大陆各区域的人群在这里融合,形成现代的各个民族群体。理清这些复杂的族群来源脉络,是了解人群起源、民族产生及融合历史的前提,也有助于增进族群的相互理解,促进民族和谐。相关的研究不但需要历史学的探索,还需要借助人类遗传学的分析。
随着分子生物学技术的发展,各类遗传标记系统被成功应用于人类群体的研究。本文运用Y染色体和常染色体遗传标记对中国西部群体的2909例个体进行了遗传分析。这些样本包括西北的新疆、青海、宁夏和西南的西藏的9个民族及其他人群。
中国西北地区1514例男性远缘个体样本的Y染色体研究显示,四大类东南亚起源的单倍群C、D、O、N的频率占该地区群体所有Y染色体单倍群频率的64.36%,其它Y染色体单倍群的比例为35.64%。这种南方类群占多数的现象在东亚其他群体中更显著,说明现代人走出非洲进入东亚,走南部迁徙路线的Y染色体特征谱系占主体地位。中亚、西亚起源的单倍群E、F、G、H、I、J在西北地区人群中的分布反映了该地区的群体与西部欧亚大陆的基因交流历史,并且西方特征谱系的频率自西向东呈现递减的梯度。中国西部地区群体内部各族群在主成分图上彼此分散的状态体现了阿尔泰语系人群的遗传非同源性。
中国西部的喜马拉雅山脉东麓,在地理位置上靠近早期人类进入东亚的入口,研究该地区群体的遗传结构,对整个东亚地区现代人的起源问题至为重要。分布在喜马拉雅东部山区主要人群是珞巴族和僜人,属于汉藏群体,而关于这两个群体的遗传学研究开展得很少。本文分析了珞巴族和僜人这两个群体的Y染色体多样性。珞巴群体中出现的Y染色体单倍群主要有D、N、O、J、Q和R,显示了其族群本源之外来自藏族(D)以及欧亚大陆西部(J、R)和北部(Q)的基因交流。而僜人的Y染色体单倍群主要有C、D、N和O,与大多数东部的汉藏群体相类似。汉藏群体的主要Y染色体单倍群是03。基于03的STR多样性的聚类分析结果显示,珞巴族在遗传上与藏族较为接近,僜人则更接近于汉藏族群的源头羌族。平均基因多样性分析结果也显示羌族的多样性在整个汉藏群体中是最高的,支持羌族是整个汉藏语系中最古老群体的观点。喜马拉雅东麓群体的多样性是整个汉藏语系群体中最低的,该地区是整个汉藏语系群体扩张的一个终点。我们认为单倍群03的群体至少经过两条路线进入喜马拉雅东部山区,随后逐渐与携带其他Y染色体单倍群的群体融合。
人类迁徙走出非洲以后,每到达一个新的地区遗传结构会发生很大变化。这种变化有的是随着群体分离而随即发生的,典型例子如Y染色体类群分化,而另外一些则是与区域环境的适应有关,典型例子如人类酒精代谢基因家族的类群分布。研究这类由环境影响发生变化的遗传标记,对于理解亲缘群体之间的生理差异的产生过程尤为重要。而最典型的生理差异明显的亲缘群体就是汉族与藏族。作为一个案例式的研究,本文通过遗传学数据较系统地调查了汉藏之间的酒精代谢基因的多样性,并探讨了遗传多样性与人群环境适应的关系。
人类酒精代谢基因家族的乙醇脱氢酶基因的多个变异与各种重大疾病相关。特别是ADH1B*47His在东亚人群中高频出现,受到显著的自然选择。ADH1B基因可以分为H1-H7七种单倍群,其中H5、H6和H7包含ADH1B*47His等位基因,而H6和H7更是东亚特有的类型,汉族中H7占绝对多数,而H6很少。本文对西藏地区1175个藏族群体ADH1B基因的研究发现,藏族的主要群体(样本来自昌都、拉萨、那曲、林芝、山南和日喀则地区)中大约有12%的单倍型H7和2%的单倍型H6的分布,频率都低于汉族,但是两种类型的比例几乎相同。一些和藏族密切联系的小群体的单倍型H7分布频率则偏低,定日藏族(9%)、工布藏族(8%)、门巴族(6%)、夏尔巴人(6%)、珞巴族(2%)和僜人(0%)。长区段单倍型分析发现ADH1B*47His在藏族群体中有微弱的正选择信号。在已研究的群体中,单倍型H7的多样性在藏族群体中最高。网络结构分析显示汉族群体的单倍型H7并非来源于藏族,而是来自汉藏的共同祖先。ADH1B基因的H7单倍型起源于汉藏的共同祖先,并且很早就流入藏族群体中。H7在汉族中的频率升高是对农业生活的遗传适应。由于藏族的农业历史很短,藏族的ADH1B基因仅受到微弱选择,单倍型频率没有显著升高,基因的多样性却累积至一个很高的水平。
The ethnic groups in China are distributed unevenly, with most Han Chinese in the east and very diverse minority ethnic groups in the west. Populations from different regions of Eurasia arrived in the West China and admixed into the present populations. To reveal and assess the population origins and the admixture process, studies from both history and genetics are essential.
With the advancement of molecular biology, various genetic markers have been successfully applied in population study. In order to investigate the populaiton genetic structure, analyses of Y chromosome and autosomal single nucleotide polymorphism markers were performed in 2909 individuals from nine ethnic groups in Western China.
In northwest China, we selected 1514 male samples and performed high-resolution genotyping with biallic markers selected according to the Y chromosome phylogeny. Four Y Chomosome hapologroups C, D, O, and N, accounted for 64.36% of the northwest China. These haplogroups are suggested to have a Southeast Asian orgin. Their high frequencies in northwest China indicates that the substantial contribution of the southern route out of Africa. The distributions of western Eurasia specific Y chromosome haplogroups E, F, G, H, I, and J in northwest China reflect the gene flow from the west. A west-to-east decline of these western haplogroups was also observed. The northwest China people, mostly Altaic-speaking populations, were discrete in principal component plot, indicating that Altaic-speaking populations do not have genetic affinity with each other.
In the southwest China, the eastern Himalayas are located near the southern entrance through which early modern humans spread into East Asia. The genetic structure in this region is therefore of great importance in the study of East Asian origins. However, few genetic studies have been performed on the Sino-Tibetan populations (e.g. Luoba and Deng) in this region. We analyzed the Y chromosome diversity of the two populations. The Luoba possessed haplogroups D, N, O, J, Q, and R, indicating gene flow from the Tibetans, as well as the western and northern Eurasians. The Deng exhibited haplogroups C, D, N, and O, similar to most Sino-Tibetan populations in the east. We further analyzed STR diversity within haplogroup O3, which is the dominant lineage in Sino-Tibetan populations. Cluster analyses showed that the Luoba are genetically closest to Tibetans and the Deng are closer to the Qiang, comparing with the other populations examined in this study. The average genetic diversity revealed that the Qiang had the greatest diversity of Sino-Tibetan populations, supporting the view of this population being the oldest in the family. The lowest diversity occurred in the eastern Himalayas, suggesting that this area was an endpoint for the expansion of Sino-Tibetan speaking groups. Thus, we have shown that populations with haplogroup 03 moved into the eastern Himalayas through at least two routes, and admixed with other populations with other haplogroups subsequently.
During human migration out of Africa, the genetic structures of populations always change greatly. These changes may occur randomly along with the population dispersal or specifically according to the adaption to the regional environment. A typical example for random change is the Y chromosome diversification, and a typical example for adaptive change is the human alcohol dehydrogenase gene (ADH) diversification. Studies on the genetic markers with adaptive changes will be most helpful in understanding the emergence of the biophysical differences between the relative populations. Here, the most typical relative populations with apparent biophysical differences, Han Chinese and Tibetans, were studied by analyzing the ADH diversities.
The human ADH gene family has seven members, among which ADH1B gene has been proved to be associated to many serious diseases. The derived allele of the non-synonymous polymorphism, ADH1B*47His, reaches high frequency only in East Asia and Southwest Asia. Micro-evolutionary study defined seven haplogroups for ADH IB, H1-H7. H6 and H7 are haplogroups with the ADH1B*47His. H7 is the dominant haplogroup of Han Chinese. We typed 22 SNPs in region covering ADH gene among 1175 individuals of 12 Tibetan populations from all districts of the Tibet Autonomous Region. The major populations of the Tibetans (Qamdo, Lhasa, Nagqu, Nyingchi, Shannan, and Shigatse) have around 12% of H7 and 2% of H6. Both frequencies are much lower than those in Han Chinese, but almost the same ratio between the two haplogroup frequencies. The minor populations have even lower frequencies. Long range haplotype analyses revealed very weak positive selection signals for H7 among the Tibetans. The haplotype diversity of H7 is much higher in the Tibetans than in any other populations studied, indicating a longest diversification history of the haplogroup in the Tibetans. Network analysis on the long range haplotypes revealed that H7 in the Han Chinese could not have derived from the Tibetans but from a common ancestor of the two populations. In conclusion, we argued that H7 of ADH1B originated in the ancestor of Sino-Tibetan populations and flowed to the Tibetans very early. However, as the Tibetans have only a relative short history of agriculture, selection should have only laid weak effects, and the frequency of H7 has not risen to high, whereas the diversity of the gene has accumulated to very high level.
引文
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