云南bo人源流的父系和母系遗传研究

对云南bo人32份男性DNA样本进行Y染色体单倍型以及mitochondrial DNA (mtDNA)单倍型分析，结果发现云南bo人的父系和母系遗传组分都表现出典型的南方人群的遗传特征。由bo人的数据结合已经发表的东亚人群的Y染色体和mtDNA单倍型(haplotype)数据进行Multidimensional Scaling(MDS)分析，结果表明，在MDS分布图中bo人群体的Y染色体单倍型和mtDNA单倍型都与南方人群聚在一起。这一结果支持bo人的遗传族源为东亚南方人群后裔，与考古学的推论相一致。结合历史和考古学证据来探讨bo人的起源和史前迁移，为揭开“bo人悬棺”这种独特的考古文化的起源和史前传播提供遗传学的研究证据。     

信息

“东亚现代人史前迁徙的遗传学研究”取得新进展东亚现代人的史前迁徙一直是人类学界颇多争议的问题之一。以前的遗传学研究揭示了东亚南方和北方人群在遗传背景上存在一定的差异,但如何解释这种遗传差异以及它同东亚现代人史前迁徙路线的关系是大家争论的焦点。昆明动物研究所“引进国外杰出人才”计划获得者、副所长宿兵研究员领导的研究小组采用父系遗传的Y染色体的遗传标记,对40个东亚南北方代表群体,共2332个男性个体进行了系统的比较分析。他们的研究结果表明,南方群体的Y染色体单倍型较北方群体更为丰富,并存在南方群体特有的单倍型…     

中国内蒙古鄂伦春族线粒体DNA高变区Ⅰ和高变区Ⅱ遗传多态性

收集50份鄂伦春族无关人群外周血样本, 用ABI PRISM377测序仪对其mtDNA HVRⅠ和HVRⅡ进行测序, 计算多态性位点数、单倍型数目、单倍型频率、平均核苷酸差异数目等多态性指标; 结合已发表的其他民族mtDNA遗传资料, 根据Nei法计算鄂伦春族与各群体之间的遗传距离, 进行聚类分析, 绘制系统发生树。鄂伦春族群体mtDNA两个高变区与CRS序列比对, 分别发现52和24个多态性位点, 分别界定了38和27种单倍型, 单倍型多态性分别为0.964±0.018和0.929±0.019; 平均核苷酸差异分别为7.379和2.408; 用HVRⅠ序列多态性数据计算Fst和dA两种遗传距离, 相关系数r为0.993(P<0.01); 基于HVRⅠ序列的系统树显示鄂伦春族与中国台湾、南方汉族和中国香港人群遗传距离较近, 与北方汉族、蒙古族及其国外人群遗传距离相对较远。我国鄂伦春族人群mtDNA具有相对独特的遗传特征, 其遗传多态性和个体识别力较高, 可用于民族起源、迁徙、法医学个体识别等领域研究。     

广西仫佬族Y染色体和mtDNA的遗传结构分析

文章对我国广西仫佬族91个无关男性个体Y-STR、Y-SNP、mtDNA HVS-Ⅰ和mtDNA-SNP等进行检测分型, 探索仫佬族的分子遗传结构。结果显示：Y染色体单倍群O1a1-P203和O2a1*-M95在仫佬族中为高频单倍群, 利用Y-STR构建的N-J树中仫佬族与侗族聚类, 说明在父系遗传上仫佬族与侗族遗传关系较近; mtDNA中F1a、M*、B4a、B5a等4类单倍群高频出现, 体现出仫佬族在母系遗传方面具有典型的东亚南方群体特征。17个Y-STR位点和mtDNA HVS-Ⅰ具有丰富的遗传多态性, 在群体遗传学和法医学方面具有应用前景。     

广西壮族人群线粒体ＤＮＡ序列遗传多态性分析

测定了８３例广西壮族人的线粒体ＤＮＡ（mtDNA）第一高变区５１５bp的序列,并从这一母系遗传标记的角度对壮族人群的起源和群体的遗传结构进行了探讨,在所测定的８３个个体中,共检测到６６个单倍型,包括７１个多态位点,显示了高度的遗传多样性,对单倍型的系统发育分析表明：壮族人群内部存在一定的分化,不同地区的壮族人群在mtＤＮＡ遗传变异上有一定的差异,其中柳州和河池地区的个体有一半以上属于聚类簇Ⅱ,而南宁和百色地区的个体属于聚类族Ⅰ的较多,结合已相关报道的人群比较分析显示,壮族和我国北方民族群体亲缘关系较远,而与南方的少数民族及南方汉族亲缘关系较近,壮族人群中单倍型辐射型体分布,系统树中壮族人群与其他人群聚类先后次序都表明壮族是一个较为典型的南方群体。     

中国西南地区3个隔离人群遗传亚结构分析

中国西南地区分布着众多少数民族,同时也包含许多地理和遗传隔离的人群,然而这些族群的遗传结构,特别是父系遗传结构缺乏深度解析。本研究采用Y染色体捕获及Illumina测序技术,对西南地区3个隔离人群男性无关个体样本,包括四川平武县的白马人、石棉县的木雅人及云南景洪市空格人,通过定点复合扩增检测,直接计数法计算相关单倍群频率,应用Past3.0软件进行PCA (principle component analysis, PCA)主成分分析并绘制群体聚类树,研究了3个族群的父系遗传结构,并探讨其遗传亚结构关系。本研究共观察到云南空格人三种Y染色体单倍群、四川白马人四种Y染色体单倍群以及木雅人五种Y染色体单倍群。结果表明,空格人与佤族的父系遗传关系最近;而白马人和木雅人主要集中在D单倍群及其下游,研究提示着白马人和四川羌族的父系遗传关系最近;木雅人与昌都地区藏族和林芝地区藏族父系遗传关系最近。本文对不同族群遗传结构的分析,丰富了我国隔离人群遗传关系的研究成果。     

古DNA的新发现支持现代人东亚起源说

1983年,科学家们根据线粒体DNA（mtDNA）系统发育树构建了首个现代人起源的分子模型,认为现代人起源于亚洲,但1987年非洲起源说的提出取代了这一亚洲起源说。非洲起源说所依赖的无限多位点假说以及分子钟假说后来被普遍认为是错误的且不切实际的。我们近几年提出了一个新的分子进化模式,即遗传多样性上限理论,重新构建了一个新的人类起源模型。这一模型与多地区起源说基本吻合, 重新把现代人类起源地定位在了东亚。非洲说与东亚说在线粒体进化树上的主要区别是单倍型N和R的关系,非洲起源说认为N是R的祖先,东亚说则反之。本研究引用了已发表的古代人群mtDNA数据,重点分析了线粒体单倍群N和R的关系。结果显示,三个最古老的人类（一个距今45000年,其他两个约40000年）都属于单倍群R;在距今39500到30000年前的人类样本中,绝大部分属于单倍群R下游的亚单倍群U,只有两例为单倍群N（Oase1距今39500年,Salkhit距今34425年）。这两例所属单倍型位于单倍群N下游最基本的未分化亚型,不属于今天存在的任何N下游单倍型,所以可能靠近单倍群N的根部。这些古DNA数据揭示单倍群R比单倍群N古老大约5000年,进一步证实了亚洲起源说的正确性,非洲说的依据不足。     

Y染色体单倍型在中国汉族人群中的多态性分布与中国人群的起源及迁移

观察了由19个单核苷酸多态位点(SNP)组成的Y染色体单倍型在全国22个省市汉族人群中的分布. 结果表明, 中国南北人群的Y染色体单倍型组成有较大差异, 南方人群的多态性明显高于北方人群, 而后者中的单倍型仅包含前者的一部分, 其中单倍型H7, H10, H11和H12仅出现在南方群体. 这一观察结果与中国南北少数民族人群间差异相符, 提示现代人类自南方进入中国, 随后由南向北逐渐迁移. 同时对携带南北人群共同的单倍型个体在3个Y染色体微卫星标记位点进行了基因组分型, 据此估算了现代人类进入中国的时间大致在18 000～60 000 a前.     

中国地方黄牛的Y染色体遗传多样性及其进化起源

中国黄牛的进化起源与遗传多样性一直是国内外动物遗传学家感兴趣的课题之一.本文主要从Y染色体的形态多样性和Y染色体特异性微卫星标记遗传多态性两个方面对中国地方黄牛的遗传多样性和进化起源进行了综述.中国地方黄牛Y染色体具有中着丝粒、亚中着丝粒和近端着丝粒3种类型,这说明中国地方黄牛起源于普通牛和瘤牛.利用Y染色体特异性微卫星标记对中国地方黄牛Y染色体单倍型分布特征及Y染色体基因流模式的分析表明,北方种群中普通牛单倍型频率最高,瘤牛单倍型在南方种群中占优势;在中国不同地域,瘤牛Y染色体单倍型频率呈现自南而北、自东而西逐渐降低的趋势,这再次证实了中国黄牛主要来源于普通牛和瘤牛,这可能是这两类牛群在长期的历史进化过程中,分别从东南方向和西北方向进入我国,并在中原地区汇合的结果.本文为中国地方黄牛品种资源保护和杂交育种工作提供了参考依据.     

和田维吾尔族人群Y染色体遗传多样性分析北大核心

[目的]分析和田维吾尔族人群Y染色体遗传多样性及与不同人群的差异。[方法]运用基因芯片技术检测860个Y-SNP位点,挑选相关位点利用Genomestudio进行分析。[结果]共检出24种单倍群。其中,单倍群R-M207和O-M175(38.10%、14.28%)在和田维吾尔族中具有较高的频率。主成分和聚类分析显示:和田维吾尔族人群与南亚、中亚、西部欧亚人群有较近的亲缘关系;与东亚、美洲、西伯利亚人群遗传结构之间差异比较大。[结论]1和田维吾尔族Y染色体SNP突变位点多样性丰富,其中主单倍群的多样性为55%。2和田维吾尔族Y染色体的两大主单倍群:R-M207(38.10%)和O-M175(14.28%)。3和田和吐鲁番两个维吾尔族群体单倍群频率和类型十分接近无显著性差异(F=0.833,P=0.367)。4和田维吾尔族人群的单倍群频率显示明显的亚欧混合现象。     

The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers

Background

The Koreans are generally considered a northeast Asian group because of their geographical location. However, recent findings from Y chromosome studies showed that the Korean population contains lineages from both southern and northern parts of East Asia. To understand the genetic history and relationships of Korea more fully, additional data and analyses are necessary.

Methodology and Results

We analyzed mitochondrial DNA (mtDNA) sequence variation in the hypervariable segments I and II (HVS-I and HVS-II) and haplogroup-specific mutations in coding regions in 445 individuals from seven east Asian populations (Korean, Korean-Chinese, Mongolian, Manchurian, Han (Beijing), Vietnamese and Thais). In addition, published mtDNA haplogroup data (N = 3307), mtDNA HVS-I sequences (N = 2313), Y chromosome haplogroup data (N = 1697) and Y chromosome STR data (N = 2713) were analyzed to elucidate the genetic structure of East Asian populations. All the mtDNA profiles studied here were classified into subsets of haplogroups common in East Asia, with just two exceptions. In general, the Korean mtDNA profiles revealed similarities to other northeastern Asian populations through analysis of individual haplogroup distributions, genetic distances between populations or an analysis of molecular variance, although a minor southern contribution was also suggested. Reanalysis of Y-chromosomal data confirmed both the overall similarity to other northeastern populations, and also a larger paternal contribution from southeastern populations.

Conclusion

The present work provides evidence that peopling of Korea can be seen as a complex process, interpreted as an early northern Asian settlement with at least one subsequent male-biased southern-to-northern migration, possibly associated with the spread of rice agriculture.     

Genetic studies of human diversity in East Asia

East Asia is one of the most important regions for studying evolution and genetic diversity of human populations. Recognizing the relevance of characterizing the genetic diversity and structure of East Asian populations for understanding their genetic history and designing and interpreting genetic studies of human diseases, in recent years researchers in China have made substantial efforts to collect samples and generate data especially for markers on Y chromosomes and mtDNA. The hallmark of these efforts is the discovery and confirmation of consistent distinction between northern and southern East Asian populations at genetic markers across the genome. With the confirmation of an African origin for East Asian populations and the observation of a dominating impact of the gene flow entering East Asia from the south in early human settlement, interpretation of the north-south division in this context poses the challenge to the field. Other areas of interest that have been studied include the gene flow between East Asia and its neighbouring regions (i.e. Central Asia, the Sub-continent, America and the Pacific Islands), the origin of Sino-Tibetan populations and expansion of the Chinese.     

Patrilineal perspective on the Austronesian diffusion in Mainland Southeast Asia

The Cham people are the major Austronesian speakers of Mainland Southeast Asia (MSEA) and the reconstruction of the Cham population history can provide insights into their diffusion. In this study, we analyzed non-recombining region of the Y chromosome markers of 177 unrelated males from four populations in MSEA, including 59 Cham, 76 Kinh, 25 Lao, and 17 Thai individuals. Incorporating published data from mitochondrial DNA (mtDNA), our results indicated that, in general, the Chams are an indigenous Southeast Asian population. The origin of the Cham people involves the genetic admixture of the Austronesian immigrants from Island Southeast Asia (ISEA) with the local populations in MSEA. Discordance between the overall patterns of Y chromosome and mtDNA in the Chams is evidenced by the presence of some Y chromosome lineages that prevail in South Asians. Our results suggest that male-mediated dispersals via the spread of religions and business trade might play an important role in shaping the patrilineal gene pool of the Cham people.     

Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor

The Qiangic languages in western Sichuan (WSC) are believed to be the oldest branch of the Sino-Tibetan linguistic family, and therefore, all Sino-Tibetan populations might have originated in WSC. However, very few genetic investigations have been done on Qiangic populations and no genetic evidences for the origin of Sino-Tibetan populations have been provided. By using the informative Y chromosome and mitochondrial DNA (mtDNA) markers, we analyzed the genetic structure of Qiangic populations. Our results revealed a predominantly Northern Asian-specific component in Qiangic populations, especially in maternal lineages. The Qiangic populations are an admixture of the northward migrations of East Asian initial settlers with Y chromosome haplogroup D (D1-M15 and the later originated D3a-P47) in the late Paleolithic age, and the southward Di-Qiang people with dominant haplogroup O3a2c1*-M134 and O3a2c1a-M117 in the Neolithic Age.     

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians

Analyses of mitochondrial DNA (mtDNA) and nonrecombining Y chromosome (NRY) variation in the same populations are sometimes concordant but sometimes discordant. Perhaps the most dramatic example known of the latter concerns Polynesians, in which about 94% of Polynesian mtDNAs are of East Asian origin, while about 66% of Polynesian Y chromosomes are of Melanesian origin. Here we analyze on a genome-wide scale, to our knowledge for the first time, the origins of the autosomal gene pool of Polynesians by screening 377 autosomal short tandem repeat (STR) loci in 47 Pacific Islanders and compare the results with those obtained from 44 Chinese and 24 individuals from Papua New Guinea. Our data indicate that on average about 79% of the Polynesian autosomal gene pool is of East Asian origin and 21% is of Melanesian origin. The genetic data thus suggest a dual origin of Polynesians with a high East Asian but also considerable Melanesian component, reflecting sex-biased admixture in Polynesian history in agreement with the Slow Boat model. More generally, these results also demonstrate that conclusions based solely on uniparental markers, which are frequently used in population history studies, may not accurately reflect the history of the autosomal gene pool of a population.     

The emerging limbs and twigs of the East Asian mtDNA tree

We determine the phylogenetic backbone of the East Asian mtDNA tree by using published complete mtDNA sequences and assessing both coding and control region variation in 69 Han individuals from southern China. This approach assists in the interpretation of published mtDNA data on East Asians based on either control region sequencing or restriction fragment length polymorphism (RFLP) typing. Our results confirm that the East Asian mtDNA pool is locally region-specific and completely covered by the two superhaplogroups M and N. The phylogenetic partitioning based on complete mtDNA sequences corroborates existing RFLP-based classification of Asian mtDNA types and supports the distinction between northern and southern populations. We describe new haplogroups M7, M8, M9, N9, and R9 and demonstrate by way of example that hierarchically subdividing the major branches of the mtDNA tree aids in recognizing the settlement processes of any particular region in appropriate time scale. This is illustrated by the characteristically southern distribution of haplogroup M7 in East Asia, whereas its daughter-groups, M7a and M7b2, specific for Japanese and Korean populations, testify to a presumably (pre-)Jomon contribution to the modern mtDNA pool of Japan.     

Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians

We investigated the distribution of Y-chromosome haplotype using 19 Y-SNPs in Han Chinese populations from 22 provinces of China. Our data indicate distinctive patterns of Y chromosome between southern and northern Han Chinese populations. The southern populations are much more polymorphic than northern populations. The latter has only a subset of the southern haplotypes. This result confirms the genetic difference observed between southern and northern ethnic populations in East Asia. It supports the hypothesis that the first settlement of modern humans of African origin occurred in the southern part of East Asia during the last Ice Age, and a northward migration led to the peopling of northern China.     

Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages

Hmong-Mien (H-M) is a major language family in East Asia, and its speakers distribute primarily in southern China and Southeast Asia. To date, genetic studies on H-M speaking populations are virtually absent in the literature. In this report, we present the results of an analysis of genetic variations in the mitochondrial DNA (mtDNA) hypervariable segment 1 (HVS1) region and diagnostic variants in the coding regions in 537 individuals sampled from 17 H-M populations across East Asia. The analysis showed that the haplogroups that are predominant in southern East Asia, including B, R9, N9a, and M7, account for 63% (ranging from 45% to 90%) of mtDNAs in H-M populations. Furthermore, analysis of molecular variance (AMOVA), phylogenetic tree analysis, and principal component (PC) analysis demonstrate closer relatedness between H-M and other southern East Asians, suggesting a general southern origin of maternal lineages in the H-M populations. The estimated ages of the mtDNA lineages that are specific to H-M coincide with those based on archeological cultures that have been associated with H-M. Analysis of genetic distance and phylogenetic tree indicated some extent of difference between the Hmong and the Mien populations. Together with the higher frequency of north-dominating lineages observed in the Hmong people, our results indicate that the Hmong populations had experienced more contact with the northern East Asians, a finding consistent with historical evidence. Moreover, our data defined some new (sub-)haplogroups (A6, B4e, B4f, C5, F1a1, F1a1a, and R9c), which will direct further efforts to improve the phylogeny of East Asian mtDNAs.     

Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians

We investigated the distribution of Y-chromosome haplotype using 19 Y-SNPs in Han Chinese populations from 22 provinces of China. Our data indicate distinctive patterns of Y chromosome between southern and northern Han Chinese populations. The southern populations are much more polymorphic than northern populations. The latter has only a subset of the southern haplotypes. This result confirms the genetic difference observed between southern and northern ethnic populations in East Asia. It supports the hypothesis that the first settlement of modern humans of African origin occurred in the southern part of East Asia during the last Ice Age, and a northward migration led to the peopling of northern China.     

Y-chromosome and mitochondrial DNA studies on the population structure of the Christmas Island community

Christmas Island is a remote Australian territory located close to the main Indonesian island of Java. Y-chromosome and mitochondrial DNA (mtDNA) markers were used to investigate the genetic structure of the population, which comprises communities of mixed ethnic origin. Analysis of 12 Y-chromosome biallelic polymorphisms revealed a high level of gene diversity and haplotype frequencies that were consistent with source populations in southern China and Southeast Asia. mtDNA hypervariable segment I (HVS-I) sequences displayed high levels of haplotype diversity and nucleotide diversity that were comparable to various Asian populations. Genetic distances revealed extremely low mtDNA differentiation among Christmas Islanders and Asian populations. This was supported by the relatively high proportion of sequence types shared among these populations. The most common mtDNA haplogroups were M* and B, followed by D and F, which are prevalent in East/Southeast Asia. Christmas Islanders of European descent were characterized by the Eurasian haplogroup R*, and a limited degree of admixture was observed. In general, analysis of the genetic data indicated population affinities to southern Chinese (in particular from the Yunnan Province) and Southeast Asia (Thailand, Malaysia, and Cambodia), which was consistent with historical records of settlement. The combined use of these different marker systems provides a useful and appropriate model for the study of contemporary populations derived from different ethnic origins.