新疆阿勒泰地区图瓦人与邻近人群遗传关系初探

在中国新疆阿勒泰地区哈纳斯景区内, 生活着一个特殊的人群—— 新疆图瓦人。他们在50年代初期第一次民族识别过程中被认定为蒙古族, 但他们自认为与蒙古人具有不同的历史渊源。为了探讨新疆图瓦人的族源问题和阐明其与邻近人群的遗传学关系, 文章采集了新疆阿勒泰地区150份男性图瓦人样本, 对其Y染色体非重组区的14个标记位点进行了分型, 构建了11种单倍型群。结果显示, 新疆图瓦人具有高频率的K^*-M9 和Q^*-M242单倍型群, 这两个单倍型群在俄罗斯图瓦人中也具有较高的频率, 而在蒙古人群和哈萨克人群中的频率则较低。主成分分析和多维尺度分析均显示新疆图瓦人与蒙古人和哈萨克人遗传上相隔较远。系统分子进化分析也表明新疆图瓦人位于与周围人群相隔较远的分化枝上。依据这些结果, 文章认为新疆图瓦人是与邻近人群如蒙古人和哈萨克人有较大遗传差异的人群。     

达斡尔语分支早期在蒙古语族中的地位

在语言学研究建立的蒙古语族的多种分化谱系树中,达斡尔语均独立构成一个语言分支或语组。此前的研究表明,达斡尔语中保留了一部分13世纪蒙古语的要素。本文以遗传学数据为基础,结合历史学、民族学和语言学等学科的证据,详细地描述了蒙古语人群始祖群体的演化历史背景,并为蒙古语族语言早期分化、达斡尔语作为独立分支诞生的过程提供了较为准确的演化时间框架。父系支系M401是蒙古语人群的奠基者父系之一,达斡尔族的主要父系F5483是M401的最古老分支之一,其他蒙古语人群的M401主要集中在另一个分支F3796,两个分支的分化年代约为2.9千年前。历史学、民族学和语言学的研究也证明了公元9世纪之后迁徙到欧亚草原上的蒙古语人群与继续保留采集渔猎生活方式的亲族之间的分化。我们认为,从多学科研究所揭示的人类群体演化历史的角度看,达斡尔族确实可视为全体蒙古语人群的最古老分支。     

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。     

云南4个少数民族8个Y-STR位点的多态分布

对云南蒙古族、纳西族、普米族和藏族4个少数民族共183份样本进行了8个Y—STR位点的多态性分析。结果显示：4个民族都保留着较高的Y—STR遗传多态性,在测出的55个等位基因中共构建了101种单倍型,其中蒙古族有29种,纳西族有17种,普米族有26种,藏族有45种。Rst距阵表明,云南蒙古族与普米族和纳西族的遗传距离最远,分别为0．28945和0．25862;云南藏族与普米族的遗传距离较远,为0．20109;云南藏族与纳西族的遗传距离最近,比其他民族两两之间的距离小1个数量级,仅为0．09475。结合历史学和民族学对4个民族父系遗传的亲缘关系进行了初步的比较分析。     

中国西南地区藏族人群遗传亚结构研究

藏族为中国西南地区典型的少数民族,分为卫藏、康巴、安多和嘉绒等多个支系。然而,对藏族支系人群的遗传结构,特别是各分支人群的父系、母系遗传结构却缺乏深度解析。本研究基于个体水平的常染色体、父系来源的Y染色体和母系来源的线粒体3个类别遗传信息,对西藏地区卫藏藏族、四川甘孜地区康巴藏族、青海地区安多藏族和四川阿坝地区嘉绒藏族共4个藏族群体进行研究,以揭示其遗传亚结构关系。采用微测序技术检测各位点分型,利用PowerPlex~?Y23和DNATyper~(TM)Y26试剂盒检测Y-STRs基因座分型,通过热图和主成分分析、祖先成分分析、单倍群频率统计、网络图及多维尺度分析等探讨其遗传亚结构。结果表明,常染色体和Y染色体遗传标记可将4个藏族人群分为3类:青藏高原的卫藏藏族为一类,高原周边地区的康巴藏族和安多藏族的遗传结构类似分为一类,"藏彝走廊"中嘉绒藏族的遗传结构与其他藏族人群差异显著而为一类。不同藏族分支人群在线粒体遗传信息方面无明显差异性。上述多类别遗传信息的分析结果为深入了解藏族不同分支人群的遗传亚结构提供了新视角。     

壮族Y染色体分型及其内部遗传结构

壮族是中国最大的少数民族,与东南亚的泰老族群关系密切,在东亚人群的遗传结构研究中地位非常特殊。本研究调查了壮族各个支系的Y染色体多样性,通过主成分分析、聚类分析和分子方差分析,揭示壮族的内部父系遗传结构。结果发现,壮族的主要Y染色体单倍群为O%＊,O2a,O1。传统的对壮族按方言分为南北二组的分类方法在遗传上并没有依据,壮族支系体现出从东往西的梯度变化过程。这说明壮族的结构中有几个层次,最早的成分普遍出现在各个支系中,第二层是由东部来的百越核心成分,第三层是北方来的汉族成分。壮族内部遗传结构的分析将有助于对东亚人群的南来起源的研究。     

线粒体DNA多态性揭示丝绸之路上游地区少数民族的基因融合

河西走廊位于中国古丝绸之路的上游地区,是连接东亚和中亚地区的主要通道．为了在遗传背景上评价该地区的基因融合,研究了该地区5个少数民族人群的线粒体DNA多态性,采用测序和PCR－限制性内切酶片段长度多态分析方法对采自河西走廊地区的三个人群和邻近的新疆两个人群总共242个无关个体进行单倍型分型,并且把得到的数据同以前报道的东亚、中亚、西亚以及欧洲人群数据进行比较．结果发现欧洲特异单倍型和东亚特异单倍型同时存在于河西走廊地区人群中,从而揭示了从欧洲经中亚向河西走廊的基因流动．河西走廊地区人群在遗传上分布于中亚和东亚人群之间,这意味着中亚和东亚人群对该地区的母系遗传结构做出了重要贡献,本研究更加完整地展示了沿着丝绸之路地区从欧洲经中亚到丝绸之路上游的河西走廊的基因流动和基因融合事件。     

中国14个民族红细胞血型座位的遗传分化

根据中国13个人口逾百万的民族及台湾高山族的红细胞血型座位的基因频率,分析了各血型系统的分化程度。结果表明,中国人群在MNSs系统上的分化十分显著。对各民族间的亲缘关系分析表明,汉族、朝鲜族、蒙古族、回族,满族和藏族等北方民族首先聚集在一起,侗族、高山族、壮族和彝族等聚集在一起,然后白族与南北两大人集聚集在一起,最后才是维吾尔族与其它人群相聚。本文以华北汉族作为蒙古人种的代表,探讨了世界上三大人种间的遗传关系,结果表明,黄种人与黑种人之间的遗传差异最小,而黑种人与白种人之间的遗传差异最大。根据基因分化系数(G_(ST))和Shannon信息测度(H),中国民族间的遗传差异均仅占中国人总遗传变异量的2％左右,这说明,绝大部分遗传变异存在于各民族之内。     

中国蒙古族体型特征

采用Heath-Carter体型法研究了中国蒙古族14个族群4810例（男性2117例,女性2693例）的体型。蒙古族内因子、中因子与年龄呈显著正相关,外因子与年龄呈显著负相关,即随年龄增长,身体线性度变小,体型趋于圆粗。蒙古族男性、女性体型都集中于偏内胚层的中胚层体型、内胚层-中胚层均衡体型、偏中胚层的内胚层体型。随着年龄增长,这3种体型的出现率均与年龄呈显著正相关,即蒙古族体型有向这3种体型集中的趋势。和汉族人相比,蒙古族身体更粗壮。主成分分析结果显示,东北三省蒙古族身体线性度小,体脂发达,骨骼和肌肉量较少。在体型图上北方蒙古族的点分布密集,说明北方蒙古族彼此体型比较接近,而南方的云南蒙古族由于内因子值小、外因子大,位点与北方蒙古族相距较远。在已经开展Heath-Carter体型法研究的中国族群中,蒙古族是体脂最为发达、身体线性度很小的民族。     

中国巴尔虎人的体质特征

在内蒙古呼伦贝尔市新巴尔虎左旗测量了巴尔虎人(男196例,女204例)的体质数据,与中国和国外族群体质资料进行了比较,得出了巴尔虎人的体质特征,初步探讨了巴尔虎人在人种学上的分型地位,分析了巴尔虎人体质形成的原因。结果表明:1)巴尔虎人多有上眼睑皱褶,有蒙古褶率为40%,鼻根高度中等、鼻翼高度中等,鼻背较低。直鼻背,颧部突出,红唇薄,发黑,肤黄,眼褐,下颏明显前凸。巴尔虎人具有蒙古人种的基本特征。2)巴尔虎人体部特征最明显的是体重大,其胸围、腹围、臀围、大腿围值在目前已经报道的中国族群中最大,其皮下脂肪层厚,BMI远远超过中国当代汉族乡村人。3)巴尔虎人男性与女性均为短头型、高头型、阔头型、中面型、中鼻型、宽胸型、中肩型、中骨盆型、中腿型、矮胖型。男性为长躯干型,女性为中躯干型。4)主成分分析结果显示,在蒙古族族群中巴尔虎人身材中等,体重大、头较长且较宽,口裂较窄,鼻高值小,鼻较宽,唇较薄。巴尔虎人与布里亚特人、图瓦人体质特征极为接近。5)巴尔虎人人种特征属于蒙古人种北亚类型贝加尔分支类型与中亚分支类型之间的中间类型,在其体质特征中还包含欧罗巴人种的成分。6)巴尔虎人由突厥语族族群逐渐成为蒙古语族族群,遗传因素是其体质特征形成的主要原因,生活环境、饮食成分对其体质特征形成也有重要作用。     

巴尔虎蒙古族少年儿童眼部特征的调查研究

本文旨在探索巴尔虎蒙古族少年儿童眼部特征,为巴尔虎蒙古族人种族研究、民族识别、遗传疾病等提供理论依据。本项研究依据《人体测量方法》和Martin测量工具说明观测265人（男性135人、女性130人）巴尔虎蒙古族6-16岁少年儿童蒙古褶（内眦褶）、上眼睑褶皱、眼裂倾斜度等眼部特征,将测量结果进行整理,与可查询到的鄂尔多斯、巴盟、阿拉善等蒙古族人种的数据进行对比分析。结果显示巴尔虎蒙古族少年儿童的眼部特征中蒙古褶、上眼睑褶皱和眼裂倾斜度有别于其他地区的蒙古族;巴尔虎蒙古族少年儿童的蒙古褶、上眼睑褶皱出现率高于鄂尔多斯蒙古族人,其他低于查询到的数据;巴尔虎蒙古族少年儿童眼部特征与其他巴尔虎蒙古族人的数据报道基本相符。说明巴尔虎蒙古族人眼部特征随年龄增长从少年儿童开始明显变化。巴尔虎蒙古族人眼部特征明显有别于其他地区的蒙古族人。从其人类学特征、历史渊源和起源、语言、特有的服饰文化习惯特征看,巴尔虎蒙古族人是一个与其他蒙古族不同的族群,是一个独立的民族或族群。     

Substitution of Hainan indigenous genetic lineage in the Utsat people,exiles of the Champa kingdom

The Utsat people do not belong to one of the recognized ethnic groups in Hainan, China. Some historical literature and linguistic classification confirm a close cultural relationship between the Utsat and Cham people; however, the genetic relationship between these two populations is not known. In the present study, we typed paternal Y chromosome and maternal mitochondrial (mt) DNA markers in 102 Utsat people to gain a better understanding of the genetic history of this population. High frequencies of the Y chromosome haplogroup O1a*-M119 and mtDNA lineages D4, F2a, F1b, F1a1, B5a, M8a, M*, D5, and B4a exhibit a pattern similar to that seen in neighboring indigenous populations. Cluster analyses (principal component analyses and networks) of the Utsat, Cham, and other ethnic groups in East Asia indicate that the Utsat are much closer to the Hainan indigenous ethnic groups than to the Cham and other mainland southeast Asian populations. These findings suggest that the origins of the Utsat likely involved massive assimilation of indigenous ethnic groups. During the assimilation process, the language of Utsat has been structurally changed to a tonal language; however, their Islamic beliefs may have helped to keep their culture and self-identification.     

Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge

Despite being located at the crossroads of Asia, genetics of the Afghanistan populations have been largely overlooked. It is currently inhabited by five major ethnic populations: Pashtun, Tajik, Hazara, Uzbek and Turkmen. Here we present autosomal from a subset of our samples, mitochondrial and Y- chromosome data from over 500 Afghan samples among these 5 ethnic groups. This Afghan data was supplemented with the same Y-chromosome analyses of samples from Iran, Kyrgyzstan, Mongolia and updated Pakistani samples (HGDP-CEPH). The data presented here was integrated into existing knowledge of pan-Eurasian genetic diversity. The pattern of genetic variation, revealed by structure-like and Principal Component analyses and Analysis of Molecular Variance indicates that the people of Afghanistan are made up of a mosaic of components representing various geographic regions of Eurasian ancestry. The absence of a major Central Asian-specific component indicates that the Hindu Kush, like the gene pool of Central Asian populations in general, is a confluence of gene flows rather than a source of distinctly autochthonous populations that have arisen in situ: a conclusion that is reinforced by the phylogeography of both haploid loci.     

Gene pool of Siberian Tatars: Five ways of origin for five subethnic groups

Siberian Tatars form the largest Turkic-speaking ethnic group in Western Siberia. The group has a complex hierarchical system of ethnographically diverse populations. Five subethnic groups of Tobol–Irtysh Siberian Tatars (N = 388 samples) have been analyzed for 50 informative Y-chromosomal SNPs. The subethnic groups have been found to be extremely genetically diverse (F _ST = 21%), so the Siberian Tatars form one of the strongly differentiated ethnic gene pools in Siberia and Central Asia. Every method employed in our studies indicates that different subethnic groups formed in different ways. The gene pool of Isker–Tobol Tatars descended from the local Siberian indigenous population and an intense, albeit relatively recent gene influx from Northeastern Europe. The gene pool of Yalutorovsky Tatars is determined by the Western Asian genetic component. The subethnic group of Siberian Bukhar Tatars is the closest to the gene pool of the Western Caucasus population. Ishtyak–Tokuz Tatars have preserved the genetic legacy of Paleo-Siberians, which connects them with populations from Southern, Western, and Central Siberia. The gene pool of the most isolated Zabolotny (Yaskolbinsky) Tatars is closest to Ugric peoples of Western Siberia and Samoyeds of the Northern Urals. Only two out of five Siberian Tatar groups studied show partial genetic similarity to other populations calling themselves Tatars: Isker–Tobol Siberian Tatars are slightly similar to Kazan Tatars, and Yalutorovsky Siberian Tatars, to Crimean Tatars. The approach based on the full sequencing of the Y chromosome reveals only a weak (2%) Central Asian genetic trace in the Siberian Tatar gene pool, dated to 900 years ago. Hence, the Mongolian hypothesis of the origin of Siberian Tatars is not supported in genetic perspective.     

Alu insertion polymorphisms and an assessment of the genetic contribution of Central Asia to Anatolia with respect to the Balkans

In the evolutionary history of modern humans, Anatolia acted as a bridge between the Caucasus, the Near East, and Europe. Because of its geographical location, Anatolia was subject to migrations from multiple different regions throughout time. The last, well-known migration was the movement of Turkic speaking, nomadic groups from Central Asia. They invaded Anatolia and then the language of the region was gradually replaced by the Turkic language. In the present study, insertion frequencies of 10 Alu loci (A25 = 0.07, APO = 0.96, TPA25 = 0.44, ACE = 0.37, B65 = 0.57, PV92 = 0.18, FXIIIB = 0.52, D1 = 0.40, HS4.32 = 0.66, and HS4.69 = 0.30) have been determined in the Anatolian population. Together with the data compiled from other databases, the similarity of the Anatolian population to that of the Balkans and Central Asia has been visualized by multidimensional scaling method. Analysis suggested that, genetically, Anatolia is more closely related with the Balkan populations than to the Central Asian populations. Central Asian contribution to Anatolia with respect to the Balkans was quantified with an admixture analysis. Furthermore, the association between the Central Asian contribution and the language replacement episode was examined by comparative analysis of the Central Asian contribution to Anatolia, Azerbaijan (another Turkic speaking country) and their neighbors. In the present study, the Central Asian contribution to Anatolia was estimated as 13%. This was the lowest value among the populations analyzed. This observation may be explained by Anatolia having the lowest migrant/resident ratio at the time of migrations.     

藏族的体质类型和人种学特征

藏族的体质类型和人种学特征一直受到学术界的关注。2018-2021年,我们测量了1530例卫藏、康巴和安多三个藏族人群的体质数据,统计结果发现,藏族男性、女性均为超中等身材,体质量超重,均为圆头型、高头型、中头型、中鼻型、中躯干型、宽胸型、宽肩型、宽骨盆型、中腿型,多有上眼睑皱褶,有内眦褶。对中国15个族群测量指标均数的主成分分析显示,藏族与东亚类型的汉族位点距离近于多数北亚类型族群,更近于多数南亚类型族群。藏族数据与国外资料中的东亚、南亚、北亚、北极类型数据的主成分分析结果显示,藏族与东亚类型位点最为接近。研究证实,当代藏族具有东亚蒙古人种类型的体质特征。     

The Association of Handgrip Strength and Type 2 Diabetes Mellitus in Six Ethnic Groups: An Analysis of the HELIUS Study

We investigated whether ethnic differences in handgrip strength, a marker of poor muscle strength and quality, is a potential cause of ethnic disparities in type 2 diabetes mellitus. We included 2086 Dutch, 2216 South Asian Surinamese, 2084 African Surinamese, 1786 Ghanaian, 2223 Turkish and 2199 Moroccan origin participants from the HELIUS study. We analyzed ethnic differences in handgrip strength, and its association with type 2 diabetes mellitus using logistic regression analyses adjusted for socio-demographic factors, body composition and lifestyle factors. Additionally, we investigated whether handgrip strength explained the ethnic differences in type 2 diabetes mellitus. We found that handgrip strength differed significantly across ethnic groups. After full adjustment, we found an inverse association with type 2 diabetes mellitus (OR 0.95; 95% CI 0.92–0.97) that did not differ substantially between ethnic groups, men and among women, and lean and overweight individuals. The association was not affected by the measure used to define type 2 diabetes mellitus, but was attenuated by exclusion of people with known diabetes. The ethnic differences in type 2 diabetes mellitus were not explained by handgrip strength (e.g. the OR for the South Asian Surinamese vs. Dutch changed from 5.03; 3.69–6.68 to 4.87; 3.57–6.65). In conclusion, we found large ethnic differences in handgrip strength and a consistent association of low handgrip strength with prevalent type 2 diabetes mellitus. This suggests that handgrip strength may be investigated as a target for intervention or a marker to identify people at risk of type 2 diabetes mellitus.     

Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies

Gene frequencies of eight Siberian populations (Mansi, Tuva, Todja, Tofalar, Buryat, Okhotsk Evenki, Ulchi, and Negidal) were determined for the three most polymorphic HLA class II loci ( DRB1, DQA1, and DQB1) by a combination of single-stranded conformational polymorphism typing and DNA sequencing. The number of alleles per population ranged from 16 to 25, from seven to eight, and from nine to 14 for the DRB1, DQA1, and DQB1 loci, respectively. The alleles at the three loci occurred in 66 different combinations (haplotypes), most of which appeared to be of ancient origin, but some may have arisen within the Siberian populations. Phylogenetic analysis of the frequency data suggests that the HLA genes of Asian and indigenous American populations stem from a single pool distinct from the gene pools of European and African populations. The Asian populations separate into two clusters, one of which encompasses nearly all the Siberian populations and all the indigenous American populations tested, while the other consists of Central, Eastern, and Southeastern Asian populations. The position of the Tuva people appears to be near the node from which the two clusters diverge. The divergence time of the two clusters is estimated to be 21,000-24,000 years BP. Three different branches of the native Siberian peoples seem to have contributed founders for the indigenous American ethnic groups.     

High-resolution analysis of Y-chromosomal polymorphisms reveals signatures of population movements from central Asia and West Asia into India

Linguistic evidence suggests that West Asia and Central Asia have been the two major geographical sources of genes in the contemporary Indian gene pool. To test the nature and extent of similarities in the gene pools of these regions we have collected DNA samples from four ethnic populations of northern India, and have screened these samples for a set of 18 Y-chromosome polymorphic markers (12 unique event polymorphisms and six short tandem repeats). These data from Indian populations have been analysed in conjunction with published data from several West Asian and Central Asian populations. Our analyses have revealed traces of population movement from Central Asia and West Asia into India. Two haplogroups, HG-3 and HG-9, which are known to have arisen in the Central Asian region, are found in reasonably high frequencies (41.7% and 14.3% respectively) in the study populations. The ages estimated for these two haplogroups are less in the Indian populations than those estimated from data on Middle Eastern populations. A neighbour-joining tree based on Y-haplogroup frequencies shows that the North Indians are genetically placed between the West Asian and Central Asian populations. This is consistent with gene flow from West Asia and Central Asia into India.     

磨盘山遗址新石器时代人骨研究

磨盘山遗址是分布在云南省楚雄彝族自治州元谋盆地的一处新石器时代聚落。本文通过对遗址出土的6例新石器时代人骨的体质人类学研究,得出以下结论:磨盘山组颅骨的形态特征可以概括为中颅型与正颅型相结合,阔额型、阔上面型、阔鼻型、中眶型并伴有颇大的面部扁平度;磨盘山组应属于亚洲蒙古人种范畴,在次级分类比较中与南亚类型在鼻眶形态和上面部形态上表现出更多的相似性;在与亚洲蒙古人种各近代组的比较中,磨盘山组与广西壮族组关系最为密切,与蒙古组关系最为疏远;在与其他新石器对比组的比较中,磨盘山组与代表"古华南类型"的甑皮岩组、鲤鱼墩组和昙石山组表现出更多的一致性,与"古中原类型"和"古华北类型"关系疏远。