环太平洋-壮族母系遗传研究（复旦大学 广西医科大学 耶鲁大学）

Mitochondrial DNA Diversity and Population Differentiation in Southern East Asia

东亚南部地区线粒体DNA多样性和人口分化

翻译：楚越DOCa 仅供内部讨论，请勿转载

Hui Li,1,2 Xiaoyun Cai,1 Elizabeth R. Winograd-Cort,2 Bo Wen,1 Xu Cheng,1 Zhendong Qin,1 Wenhong Liu,1 Yangfan Liu,1 Shangling Pan,3 Ji Qian,1 Chia-Chen Tan,1 and Li Jin1,4*

1 MOE Key Laboratory of Contemporary Anthropology and Center for Evolutionary Biology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, China

复旦大学生命科学学院，生物医学研究所，当代人类学教育部重点实验室，进化生物学研究中心，中国上海200433

2 Department of Genetics, School of Medicine, Yale University, New Haven, CT 06520

耶鲁大学医学院遗传学系，美国 康涅狄格州（CT） 纽黑文 06520

3 Department of Pathophysiology, Guangxi Medical University, Nanning 530021, China

广西医科大学病理生理教研室，中国南宁530021

4 Center for Genome Information, Department of Environmental Health, University of Cincinnati, Cincinnati, OH 45267

辛辛那提大学环境卫生系基因组信息中心，美国 俄亥俄州（OH）辛辛那提45267

关键词

mtDNA: Daic: Austro-Asiatic: ethnic differentiation: East Asia

线粒体DNA，壮侗语族群，南亚语族群，民族分化，东亚

ABSTRACT Mitochondrial DNA (mtDNA) polymorphism has been studied systematically in the Han, Tibeto- Buman, and Hmong-Mien ethnic families of southern East Asia. Only two families in this region, Daic and Aus- tro-Asiatic, were still uninvestigated. Daic is a major ethnic family in South China and Southeast Asia and has a long history. To study mtDNA polymorphism within this family, all the Daic populations of China and some of Vietnam (774 individuals from 30 populations) were typed by HVS-1 region sequencing and by PCR-RFLP assays. The observed high Southern type frequencies (B, F, M7, R) confirmed Daic as a typical Southern group. mtDNAs of other populations (126 individuals from 14 populations) from Austro-Asiatic ethnic families neighboring the Daic were also typed. Networks of mtDNA haplogroups in South China were traced from these new data and those from the literature. Ethnic families share many hap- logroups, indicating their common origin. However, the two largest families in South China, Daic, and Hmong- Mien, polarized into several ethnic family specific haplogroups. Haplogroup ages were estimated in the networks of high-frequency haplogroups (B, F, M7, R), and they were found to originate about 50,000 years ago. In contrast, ethnic family specific haplogroups all originated around 20,000 years ago. We therefore conclude that modern humans have lived in South China for a long time, inside-ethnogenesis was a rather late event, and frequent inmixing was taking place throughout. MtDNA data of Daic, Austro-Asiatic and other populations in South China has therefore proven pivotal for studying the human history of East Asia.

Am J Phys Anthropol 134:481-488, 2007.

2007 Wiley-Liss, Inc.

摘要：在系统地研究了东亚南部的汉族，藏缅族，苗瑶族表现出的线粒体DNA（mtDNA）多态性之后。只有这个地区的两个族群，壮侗语和南亚语族族群，还没有被调查。壮侗语族群是中国南方和东南亚的一个重要的民族，历史悠久。为了研究这个家族中的mtDNA多态性，我们通过HVS-1区域测序和PCR-RFLP分析，对中国和越南的一些壮侗语群体（来自30个群体的774个个体）进行分型。观察到高频率的南部类型分布（B，F，M7，R），证实壮侗语族群是一个典型的南方群体。其他人群（来自14个人群的126个个体）来自壮侗语族群附近的南亚族群的mtDNA也被分类。从这些新的数据和文献中可以追踪到中国南方线粒体DNA单倍群的网络。族群如果共享许多单倍群，证实他们有共同的起源。然而，中国南方最大的两个族群，壮侗语族群和苗瑶族群，则极化为几个不同的民族特定的单倍群。通过对高频单倍群（B，F，M7，R）的网络进行推算得出了单倍群的年龄，发现它们起源于大约5万年前。相比之下，各民族特有的单倍群都发源于两万年前。因此，我们得出结论：现代人类在中国南方地区长期生活，其中民族起源是一个相当晚的事件，并且经常发生混合。因此，中国南方的壮侗语，南亚和其他族群的MtDNA数据已经被证明是研究东亚人类历史的关键。

美国体质人类学杂志（Am J Phys Anthropol） 134期：481-488页, 2007年。

2007年Wiley-Liss公司

Modern humans have lived in South China for at least 30,000 years, since the age of the Liujiang Man, discovered in Guangxi, China, in 1958 (Wu, 1959). Genetic studies show that populations in North China derived from populations in South China (Su et al., 1999). A large number of anthropological studies suggested that South China is the motherland of many ethnic groups throughout East Asia and the Pacific. There have been migrations from South China to Southeast and Northeast Asia and other neighboring areas during prehistory and history. The most famous among these migrations was the migration of Austronesian populations, which are believed to have left the coast of South China about 6,000 years before the present (kybp) and spread throughout the Pacific (Zhang, 1987; Diamond, 1988; Bellwood et al., 1995). The genetic structure of populations in this area is, therefore, pivotal in forming of ethnic patterns in east Eurasia.

现代人类在中国南方至少有3万年的历史，自1958年在中国广西发现的柳江人（Wu，1959年）以来。遗传研究表明中国北方地区的种群来源于中国南方地区（Su等，1999年）。大量的人类学研究表明，中国南方地区是整个东亚和太平洋地区多民族的发源地。在史前和历史上，从中国南方到东南亚，东北亚等周边地区有过迁徙的历史。 在这些迁徙中最为着名的是南岛人口的迁徙，相信这种迁徙在距离现在6000年前已经离开中国南方海岸并传播到整个太平洋地区（Zhang，1987年; Diamond，1988年; Bellwood 等，1995年）。 因此，该地区人口的遗传结构是欧亚东部形成种族格局的关键。

There are many ethnic families besides Han Chinese in South China, such as the Daic, Hmong-Mien (HM), Tibeto-Burman (TB), Austro-Asiatic (AA), Taiwan aborigines (TA) and the Malayo-Polynesians (MP). Among these populations, the Daic (also called Baiyue in Chinese) is the largest and most widespread. The total population of the nine official Daic nationalities in China is 25.8 million (2000 census). However, the population of the Daic descendants assimilated by Han Chinese is most probably even larger than this number (Song, 1991). Moreover, there are about 80 million (Grimes, 2002) Daic in Thailand, Laos, Vietnam, Myanmar, and India who migrated from South China. So in size, the Daic population is second only to the Han, and is far larger than any other ethnic family in South China. Until the arrival of the Han (Wen et al., 2004a), the Daic were the aboriginal ethnic group of China's southeast coastal zone, which extends from Shanghai to Hanoi (Kuaiji to Jiaozhi, Song, 1991), although most of the Daic populations reside to the west of Hong Kong now. Thus, the genetic structure of the Daic is one of the most important parts of the study of South China's genetic structure.

除了汉族之外，中国南方地区还有很多民族，如壮侗语系族群，苗瑶族（Hmong-Mien，HM），藏缅族（Tibeto-Burman，TB），南亚语系族群（Austro-Asiatic，AA），台湾原住民（Taiwan aborigines，TA），马来-波利尼西亚族群（Malayo-Polynesians，MP）等。在这些人群中，壮侗语系族群（在中国也被称为百越）是人口最多和最广泛分布的。中国9个正式的壮侗语民族的总人口是2580万（2000年人口普查）。然而，被汉族同化的壮侗语族群的子孙的人口很可能比这个数字更大（Song，1991年）。此外，泰国，老挝，越南，缅甸和印度有从中国南部迁徙的大约有8000万壮侗语系人群（Grimes，2002）。所以大小人口仅次于汉族，远远超过中国南方的其他民族。直到汉人到来（Wen等，2004年，a），壮侗语系族群是中国东南沿海地区的原住民族，从上海延伸到河内（会稽至交趾，Song，1991年），尽管大部分的壮侗语族群人口现在居住在香港以西。因此，壮侗语族群的遗传结构是研究中国南方遗传结构最重要的部分之一。

线粒体DNA是人口史研究中的一个有力工具，它在全球人口研究中发挥了至关重要的作用（Shriver and Kittles，2004年）。也正在对中国南方人群的线粒体DNA进行研究。连续报告了某些地区的人群数据，特别是云南省西南少数民族的数据（Yao和Zhang，2002年）。对民族也正在进行系统的调查，第一个要完成谱系调查的是藏缅族（Tibeto-Burman，TB）。中国大部分TB人群的mtDNA多态性是北方起源的，同时也吸收了大量的南方血统（Wen 等，2004年，b）。对汉族人群也进行了系统的研究，发现了与TB相似的混合结构（Wen等，2004年，a）。在苗瑶民族（Hmong-Mien，HM）中进行了类似的研究，但是这些数据显示北部谱系与南部谱系的混合较少（Wen等，2005年）。 台湾原住民（Taiwan aborigines，TA）的数据也有报道（Tajima等，2003年）。

Overall, mtDNA research in South China is relatively complete, except for that of the major group, the Daic, and for the AA group in outlying regions. As is widely known, the Han and TB groups moved from Northern China (Su et al., 2000), and while the Han settled throughout South China, the TB settled mainly in remote areas of Southwestern China. The TA and MP groups, natives of South China, have smaller populations and now reside in the Southeast islands far from the mainland. Therefore, the ethnic groups of most relevance to our study in South China are the HM and Daic. Knowing their genetic structure would contribute to a full understanding of the original genetic structure of Southern China. Although the AA group is far to the Southwest, it is still of significant value as a reference population considering it is so ancient a group (the ancient distribution of groups mentioned above refers to Fig. 1). As a result, we will analyze the matrilineal genetic structure of South China by exploring the mitochondrial DNA polymorphisms of all Daic populations and many AAs, eventually combining our data with that from other groups.

总体而言，中国南方地区的线粒体DNA研究较为完整，除了主要群体，壮侗语族群，和边远地区南亚语系族群（AA）外，众所周知，汉族和藏缅族（TB）来自中国北方（Su等，2000年），汉族居住范围遍布中国南方，藏缅族（TB）主要集中在西南偏远地区。台湾原住民（TA）和马来-波利尼西亚族群（MP），中国南方的原住民，人口较少，现在居住在远离大陆的东南诸岛。因此，与我们的中国南方研究最相关的民族是苗瑶民族（HM）和壮侗语民族（Daic）。了解其遗传结构将有助于全面了解中国南方的原始遗传结构。尽管南亚语系族群（AA）组与西南地区相差甚远，但考虑到它是如此古老的一个群体（上文提到的群体的古代分布参见图1），作为参照群体仍然具有显著的价值。因此，我们将通过探索所有壮侗语民族（Daic）群体和许多南亚语系族群（AA）的线粒体DNA多态性来分析中国南方地区的母系遗传结构，最终将我们的数据与其他群体的数据结合起来。

Fig. 1. Ethnic divisions in South China before the Han's southward expansion. Dashed lines are the ethnic divisions. Dotted lines are the province borders. Dashed dotted lines are the country borders. Solid lines are rivers and sea lines. Important cordilleras between ethnic areas are marked in the map.

图1.汉族向南扩张前的中国南方民族区域 间隔线是民族区分线。 虚线是省边界。 间隔的加点线是国界。 实线是河流和海岸线。地图上标有民族地区之间的重要山脉。

Through the analysis of mtDNA, we expect to discover which mtDNA polymorphisms represent the matriline- age of South China, when they were formed, and how and when they branched out geographically. In this way, we hope to ascertain the timetable of modern human settlement and fragmentation in South China, and thus to provide a sturdy foundation for the original genetic structure of the whole of East Asia.

通过对线粒体DNA的分析，我们期望发现哪些线粒体DNA多态性代表了中国南方地区的母系时代，它们何时形成，怎样进行分支分布。如此我们希望能够确定中国南方现代人类居住和形成支系的时间表，从而为了解整个东亚的原始基因结构提供坚实的基础。

TABLE 1 General information about the population studied

表1 研究族群的基本信息

ISO639-3 is the international standard devised to enable the uniform identification of all known languages in a wide range of applications, particularly including information systems. For our sample populations these linguistic tags can be used to search Ethnologue (http://www.ethnologue.com) for information on the populations. Those codes with stars stand for the languages used by several populations beside our sample populations. The original languages of those sample populations have been replaced by the coded languages.

ISO639-3是国际标准，旨在使所有已知语言能够在各种应用中，尤其是信息系统中统一识别。 对于我们的样本群体，这些语言标签可以用来搜索《民族语》（Ethnologue）（http://www.ethnologue.com）。 那些带有星号的编码，代表我们样本族群以外被多个族群使用的语言。这些样本族群的原始语言已被编码语言取代。