东亚西南部人群线粒体DNA研究：藏族和孟高棉语族人群的母系遗传多样性
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摘要
分子人类学的诞生和发展,为解决人类起源、进化、迁徙等诸多科学问题提供了新的证据和极有价值的信息。分子人类学以人体DNA为对象来研究人群的遗传结构。结合分子人类学、体质人类学、考古学、语言学、民族学等多学科的研究结果,我们可以综合地了解人群的系统发生历史。
人类线粒体DNA,由于具有拷贝数高、母系遗传、缺乏重组、突变率高等一系列的特性,成为了分子人类学中研究人群母系遗传结构的理想材料。本文主要通过线粒体DNA多样性信息研究了东亚西南部两个重要群体——藏族和孟高棉语族人群的母系遗传结构和人群起源。
由于极高的海拔和严酷的自然环境,西藏高原地区成为人类起源和进化研究中的重要区域。西藏高原分布最广的藏族人群的起源和迁徙路线还存在较多的争议。在本研究中,通过分析来自高原九个不同区域的562份藏族群体线粒体DNA单倍型多样性,特别是线粒体全序列信息,我们证实藏族主要的母系遗传成分来源于东亚北方。但同时也发现藏族人群具有多重起源：以单倍群M62为代表的旧石器时代末次冰期最高峰(LGM)之前的古老人群遗存；以单倍群A、C、D为代表的一万到两万年前从东亚北方进入高原的人群；以单倍群M9为代表的新石器时代的移民；近晚期历史上的人群交流。
现代人从南方进入东亚的路线中,东南亚中南半岛是一个非常重要的中间站。然而,对这个地区人群的分子人类学研究却十分缺乏。本文中,我们收集并分析了了分布在该地区的南亚语系孟高棉语族人群中18个支系888个个体的线粒体DNA数据。结果发现孟高棉人群的母系遗传成分主要是东亚南方古老并高频的类型B、F和M*,说明它是一个典型的南方土著群体。结合东亚、东南亚其他人群的线粒体数据进行网络结构分析后,我们还发现一些特殊单倍型(B4c2、R22和F1b)显示出一万到两万年前中南半岛上从南向北的人群流动。迁徙可能是冰期结束后海平面上升造成的。最后,通过与南亚语系另外一个分支门达语族人群线粒体数据的比较,我们还证实南亚语系内部各支系具有不同的母系起源。
The development of molecular has provided new evidence and epoch-making information for many anthropological questions, such as human origin, evolution and migration. In the studies of molecular anthropology, human DNA is used as a tool to analyze the genetic structure of populations. Combined with results of molecular anthropology, physical anthropology, archaeology, linguistics and ethnology, we can comprehensively understand the history and evolution of populations.
Several unique properties of human mitochondrial DNA (mtDNA), including its high copy number, maternal inheritance, lack of recombination, and high mutation rate, have made it the molecule of choice for studies of human population history and evolution. In this thesis, we used mtDNA diversity information to study maternal genetic structure and origin of Tibetan and Mon-Khmer populations in western and southern East Asia.
As a high-altitude immense plateau surrounded by towering mountain range, Tibetan plateau served as an important region in the studies of human origin and evolution. However, there are still controversies among the origin and migration routes of Tibetan, which is the most widely distributed Aboriginal on the plateau. We sampled562Tibeto-Burman inhabitants from nine different regions across the plateau to carry out high-resolution mtDNA analyses. By examining the mtDNA haplogroup distributions and their principal components, we confirmed that the maternal diversity on the plateau reflects mostly the northern East Asian component. We also demonstrated multiple origins of the Tibetan people:the relic of Palaeolithic people before the Last Glacial Maximum(LGM) represented by haplogroup M62; ancient populations from northern East Asia10,000to20,000years ago represented by haplogroup A, C and D; Neolithic migrants represented by haplogroup M9; and historical population movements.
Indo-China Peninsula is a crucial intermediate station in the routes of modern human migrations into East Asia. However, little investigation has been conducted on the populations of this area. Here we presented the mtDNA data of888individuals from18populations of Mon-Khmer language branch, which distributed primarily across Southeast Asia. The principal components of Mon-Khmer mtDNA gene pool are haplogroup B, F and M*, which are ancient and high-frequency in southern East Asia. Network analyses of several haplogroups (B4c2, R22and Flb) revealed south-to-north human migrations10,000～20,000years ago, which may be the result of post-glacial sea level rise. Finally, we also confirmed different maternal origins of Mon-Khmer and Munda populations.
人类线粒体DNA,由于具有拷贝数高、母系遗传、缺乏重组、突变率高等一系列的特性,成为了分子人类学中研究人群母系遗传结构的理想材料。本文主要通过线粒体DNA多样性信息研究了东亚西南部两个重要群体——藏族和孟高棉语族人群的母系遗传结构和人群起源。
由于极高的海拔和严酷的自然环境,西藏高原地区成为人类起源和进化研究中的重要区域。西藏高原分布最广的藏族人群的起源和迁徙路线还存在较多的争议。在本研究中,通过分析来自高原九个不同区域的562份藏族群体线粒体DNA单倍型多样性,特别是线粒体全序列信息,我们证实藏族主要的母系遗传成分来源于东亚北方。但同时也发现藏族人群具有多重起源：以单倍群M62为代表的旧石器时代末次冰期最高峰(LGM)之前的古老人群遗存；以单倍群A、C、D为代表的一万到两万年前从东亚北方进入高原的人群；以单倍群M9为代表的新石器时代的移民；近晚期历史上的人群交流。
现代人从南方进入东亚的路线中,东南亚中南半岛是一个非常重要的中间站。然而,对这个地区人群的分子人类学研究却十分缺乏。本文中,我们收集并分析了了分布在该地区的南亚语系孟高棉语族人群中18个支系888个个体的线粒体DNA数据。结果发现孟高棉人群的母系遗传成分主要是东亚南方古老并高频的类型B、F和M*,说明它是一个典型的南方土著群体。结合东亚、东南亚其他人群的线粒体数据进行网络结构分析后,我们还发现一些特殊单倍型(B4c2、R22和F1b)显示出一万到两万年前中南半岛上从南向北的人群流动。迁徙可能是冰期结束后海平面上升造成的。最后,通过与南亚语系另外一个分支门达语族人群线粒体数据的比较,我们还证实南亚语系内部各支系具有不同的母系起源。
The development of molecular has provided new evidence and epoch-making information for many anthropological questions, such as human origin, evolution and migration. In the studies of molecular anthropology, human DNA is used as a tool to analyze the genetic structure of populations. Combined with results of molecular anthropology, physical anthropology, archaeology, linguistics and ethnology, we can comprehensively understand the history and evolution of populations.
Several unique properties of human mitochondrial DNA (mtDNA), including its high copy number, maternal inheritance, lack of recombination, and high mutation rate, have made it the molecule of choice for studies of human population history and evolution. In this thesis, we used mtDNA diversity information to study maternal genetic structure and origin of Tibetan and Mon-Khmer populations in western and southern East Asia.
As a high-altitude immense plateau surrounded by towering mountain range, Tibetan plateau served as an important region in the studies of human origin and evolution. However, there are still controversies among the origin and migration routes of Tibetan, which is the most widely distributed Aboriginal on the plateau. We sampled562Tibeto-Burman inhabitants from nine different regions across the plateau to carry out high-resolution mtDNA analyses. By examining the mtDNA haplogroup distributions and their principal components, we confirmed that the maternal diversity on the plateau reflects mostly the northern East Asian component. We also demonstrated multiple origins of the Tibetan people:the relic of Palaeolithic people before the Last Glacial Maximum(LGM) represented by haplogroup M62; ancient populations from northern East Asia10,000to20,000years ago represented by haplogroup A, C and D; Neolithic migrants represented by haplogroup M9; and historical population movements.
Indo-China Peninsula is a crucial intermediate station in the routes of modern human migrations into East Asia. However, little investigation has been conducted on the populations of this area. Here we presented the mtDNA data of888individuals from18populations of Mon-Khmer language branch, which distributed primarily across Southeast Asia. The principal components of Mon-Khmer mtDNA gene pool are haplogroup B, F and M*, which are ancient and high-frequency in southern East Asia. Network analyses of several haplogroups (B4c2, R22and Flb) revealed south-to-north human migrations10,000～20,000years ago, which may be the result of post-glacial sea level rise. Finally, we also confirmed different maternal origins of Mon-Khmer and Munda populations.
引文
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