贵州侗族、仡佬族、土家族和彝族人群线粒体DNA多态性研究

从母系遗传的角度揭示世居贵州的侗族、仡佬族、土家族和彝族人群的的遗传结构和遗传分化关系,并对各民族的族源和迁徙进行初步的探讨。采用高变区序列分析与编码区PCR-RFLP分析相结合的方法对4个群体108例样本进行mtDNA多态性分析,共鉴定了37种(亚)单倍群,单倍群分布频率及主成分分析显示:侗族含有高比例的南方优势单倍群,表现出典型的南方群体特征;彝族兼有高比例的南北方优势单倍群,提示它同时具有南北方群体的一些母系遗传特征;彝族和仡佬族聚在一起,可能是由于历史上两个民族的先民曾发生过广泛的基因交流。     

贵州苗族、布依族、侗族人群线粒体DNA多态性研究

目的:调查贵州苗族、布依族、侗族人群mtDNA的群体遗传特点。方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术和DNA测序法,对3个民族男性个体mtDNA上12个SNP进行多态性分析。结果:285名个体共检出47种单倍型和12种单倍群。主要单倍型H32、H36、H10在3个民族间频率分布差异有统计学意义(P0.05);3个民族共有单倍型为11种(72.98%)且在民族间频率分布差异有统计学意义(P0.05),单倍群B(21.05%)和M7(21.05%)频率最高,B在苗族、布依族中分布频率与侗族间差异有统计学意义(P0.05)。结论:贵州苗族、布依族、侗族人群mtDNA单倍型分布相似,单倍群频率及主成分分析表现出南方群体特征。侗族母系遗传结构较苗族和布依族更为复杂,民族间存在基因交流的可能。     

白族群体间的Y染色体和线粒体DNA多态性的分析

从父系和母系基因库水平上,研究不同分布地区白族群体之间的遗传结构的异同,并对其族源以及本民族群体之间的微进化关系进行初步的探讨。利用PCR-RFLP方法对云南白族和湖南白族及云南的傣族、布依族、独龙族、怒族、阿昌族和湖南土家族共8个群体进行14个线粒体多态位点和Y染色体上的13个双等位基因位点进行基因分型。统计单倍型,在SPSS软件上进行主成分分析。结果显示,两个白族群体在Y染色体双等位基因单倍型分布上差异不大,以H6、H8为主要单倍型分布;在线粒体单倍群分布上,两个白族群体则差异显著,单倍群D、B、M8在湖南白族中的分布频率比云南白族高的多,而在云南白族中M^*、G、F的频率则比湖南白族高。对Y染色体单倍型分布频率进行主成分分析表明两个白族群体聚在一起,整体上和其他北方起源的群体聚成一组;而对线粒体的单倍群分布频率分析显示湖南白族接近湖南汉族和土家族,而云南白族则接近云南怒族和阿昌族。两个白族群体在父系遗传结构上相近,表明他们具有共同的父系族源;而母系遗传结构上的差异,可能与历史上迁到湖南的白族先民主要为男性军士,流寓到当地后与汉、土家等民族女子通婚所致。     

云南18个民族Y染色体双等位基因单倍型频率的主成分分析

世居云南的少数民族中。壮、傣、水、布依、布朗、德昂、佤、彝、白、怒、哈尼、傈僳、拉祜、纳西、景颇、阿昌、基诺和独龙18个民族是由“羌”、“濮”、“越”3大部落群体演化而来,是云南的土著居民。利用PCR-RFLP方法对这18个土著民族进行Y染色体上13个双等位基因位点进行基因分型。结果显示,不同历史族源的民族群体在Y染色体双等位基因单倍型分布上具有一定的差异：在百越后裔民族群体中以单倍型H11、H12为主要分布;在氐羌后裔民族中以单倍型H5、H6和H8为主要分布;在百濮后裔民族群体中主要单倍型分布为H6、H8和H11。进一步主成分分析表明,百越后裔民族群体和氐羌后裔民族在主成分图上聚为两组,提示父系基因库有不同的来源,与历史记载相印证。     

茶洞话群体的Y染色体遗传结构及其父系起源研究

我国广西的桂东北地区大约有20,000人使用茶洞话,该群体的族源问题一直存在争议。本文为调查茶洞话群体的Y染色体遗传结构,探讨其父系起源,对临桂县使用茶洞话的21名无关男性个体的Y-STR和Y-SNP进行了检测分型,并对该群体与周边民族的遗传关系进行了研究分析。结果显示:茶洞话群体的17个Y-STR位点具有丰富的遗传多态性,适用于群体遗传学和法医学研究;Y染色体高频单倍群为O2*-P31和O2a1*-M95,表明茶洞话群体具有显著的百越民族系统侗傣族群的遗传背景;N-J树和主成分分析显示茶洞话群体与仫佬族的父系遗传关系较之与毛南族和汉族更亲近。本研究结果为茶洞话群体的族源研究提供了遗传学证据。     

中国小菜蛾群体遗传变异的时空动态

【目的】小菜蛾 Plutella xylostella 是十字花科蔬菜最重要的迁移性害虫之一,在中国越冬区(OR)的群体和季节性繁殖区(SBR)的群体之间具有“源-汇”关系和复合群体的特征。本研究旨在揭示中国小菜蛾群体遗传变异的时空动态,以期进一步阐明该虫的迁移特性及其对区域灾变的影响。【方法】基于已经发表的4组不同采样时间中国小菜蛾 COI 序列(共1 567条)数据,将每个数据集细分为3组:OR群体、SBR群体以及特定采样时间(ST)的群体。对不同组(群体)进行遗传多样性、遗传分化、单倍型相似性和群体演化史的分析。【结果】基于 COI 序列的小菜蛾群体遗传变异分析结果表明,同一采样时间内,OR群体和SBR群体遗传多样性水平相当。虽然SBR群体在单倍型频率上不稳定,导致包含SBR的群体间遗传分化较大,但SBR群体单倍型均能够在同一采样时间的OR群体中找到,或SBR单倍型仅与OR单倍型相差2个碱基以内;SBR群体中单倍型频率在不同年份间变化大,遗传分化最大,而ST群体之间遗传分化的变异水平最低。不同采样时间样品 COI 序列的碱基错配分布图呈现相同的单峰状,且不同采样时间样本主要是由几种相同的单倍型构成。【结论】这些结果表明:迁移是影响中国季节性繁殖区小菜蛾群体遗传变异的主要因素;中国不同区域的小菜蛾群体遗传变异在时间尺度上具有稳定性和相关性。小菜蛾复合群体特征为阐明其季节性迁移特性提供了重要的生态学依据。     

Rh系统单倍型在中国人群中的分布

对中国已发表的125个人群Rh血型系统表型分布频率数据进行了收集和整理。用累积计算法（Counting method)重新计算单倍型频率,通过各单倍型的分布差异分析中国不同地区不同种族、人群的遗传差异,分组比较了不同地区汉族和少数民族人群的基因多样度和基因分化度,结果表明南方少数民族和北方少数民族民族亚群体基因多样度有明显差异,用不同方法计算中小组遗传距离并进行聚类分析。最后,计算了除维吾尔族和哈萨克族外的68个人群间的遗传距离并聚类比较,结果表明Rh基因单倍型的分布与地理分布基本相符。     

曲阜地区孔姓人群17个Y-STR基因座遗传多态性分析

应用AmpFLSTR~Y-filer~(TM)PCR Amplification Kit荧光标记复合扩增试剂盒(ABI公司),对曲阜地区11 18名孔姓男性个体血样DNA进行PCR,扩增,统计分析17个Y-STR基因座的遗传学参数。实验结果显示,17个基因座除DYS385a/b基因座检出51个单倍型外,其余基因座上分别检出4~11种等位基因,等位基因频率分布在0.0009~0.8265之间。由17个基因座组成的YH单倍型系统共检出206种单倍型。根据Y-STR单倍型推断了Y-SNP单倍群,发现曲阜孔姓有3种高频单倍群:C3、Q1a1和O3,前两者有着明显的单祖先扩散结构,最可能是孔子类型。本实验通过对曲阜地区孔姓人群群体17个Y染色体短串联重复序列基因座遗传多态性的调查,记录、保存孔姓人群遗传学数据。     

内蒙古地区蒙古族HLA-A、B、DRB1基因座多态性分析

应用序列特异性寡核苷酸探针反向斑点杂交技术对内蒙古地区蒙古族106名无关健康个体的HLA-A、B和DRB1 基因座进行基因分型, 以研究内蒙古地区蒙古族人群HLA-A、B、DRB1基因座的等位基因及其组成的单倍型频率分布特征。 采用最大数学预期值算法计算HLA基因座的等位基因频率和单倍型频率。106 名内蒙古地区蒙古族个体的HLA-A、B、DRB1基因座分别检出13、29、13个等位基因。高频单倍型分别为 HLA-A*02-B*46 (0.0510); HLA-A*02-B*13(0.0495); HLA-A*02-B*51(0.0442); HLA-B*13-DRB1*07 (0.0555); HLA- B*46-DRB1*09(0.0378); HLA-B*35-DRB1*13(0.03300); HLA-A*02-B*13-DRB1*07(0.033019); HLA-A*02-B*46- DRB1*09(0.031985)。研究表明: 内蒙古地区蒙古族人群HLA基因座的等位基因和单倍型具有较高的遗传多态性。HLA- A*24-B*14, HLA-A*32-B*63在该民族具有极强的连锁不平衡。     

应用Y染色体SNP对新疆三个隔离人群遗传多样性的研究

克里雅人、罗布人、刀郎人是生活在我国西部边疆沙漠腹地、人口稀少的隔离人群。基于对这三个隔离人群179人Y染色体全序列的测序和分型,得到每个个体Y染色体所有突变的SNP位点和隶属的单倍群,并对各单倍群类型和频率进行了分析。以探知三个隔离人群的Y染色体遗传结构和遗传多样性。通过研究结果表明:克里雅人群检出12个单倍群,高频单倍群有J2a1b1(25.64%),R1a1a1b2a(20.51%),R2a(17.95%),R1a1a1b2a2(15.38%);罗布人群检出16个单倍群,高频单倍群有J2a1(43.75%),J2a2(14.06%),R2(9.38%),L1c(7.81%);刀郎人群检出40个单倍群,高频单倍群有R1b1a1a1(9.21%),R1a1a1b2a1a(7.89%),R1a1a1b2a2b(6.58%),C3c1(6.58%).三个隔离人群与维吾尔族、蒙古族、撒拉族亲缘关系较近;在单倍群类型和频率上与维吾尔族最接近且无显著性差异(f=0.833,p=0.367)。此外,三个隔离人群单倍群类型和频率显示明显的亚欧混合现象,经过长期基因融合使其具有中亚人群的典型特征,适用于法医遗传学。     

Genetic differences between Chibcha and Non-Chibcha speaking tribes based on mitochondrial DNA (mtDNA) haplogroups from 21 Amerindian tribes from Colombia

We analyzed the frequency of four mitochondrial DNA haplogroups in 424 individuals from 21 Colombian Amerindian tribes. Our results showed a high degree of mtDNA diversity and genetic heterogeneity. Frequencies of mtDNA haplogroups A and C were high in the majority of populations studied. The distribution of these four mtDNA haplogroups from Amerindian populations was different in the northern region of the country compared to those in the south. Haplogroup A was more frequently found among Amerindian tribes in northern Colombia, while haplogroup D was more frequent among tribes in the south. Haplogroups A, C and D have clinal tendencies in Colombia and South America in general. Populations belonging to the Chibcha linguistic family of Colombia and other countries nearby showed a strong genetic differentiation from the other populations tested, thus corroborating previous findings. Genetically, the Ingano, Paez and Guambiano populations are more closely related to other groups of south eastern Colombia, as also inferred from other genetic markers and from archeological data. Strong evidence for a correspondence between geographical and linguistic classification was found, and this is consistent with evidence that gene flow and the exchange of customs and knowledge and language elements between groups is facilitated by close proximity.     

The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations

Two tribal groups from southern India--the Chenchus and Koyas--were analyzed for variation in mitochondrial DNA (mtDNA), the Y chromosome, and one autosomal locus and were compared with six caste groups from different parts of India, as well as with western and central Asians. In mtDNA phylogenetic analyses, the Chenchus and Koyas coalesce at Indian-specific branches of haplogroups M and N that cover populations of different social rank from all over the subcontinent. Coalescence times suggest early late Pleistocene settlement of southern Asia and suggest that there has not been total replacement of these settlers by later migrations. H, L, and R2 are the major Indian Y-chromosomal haplogroups that occur both in castes and in tribal populations and are rarely found outside the subcontinent. Haplogroup R1a, previously associated with the putative Indo-Aryan invasion, was found at its highest frequency in Punjab but also at a relatively high frequency (26%) in the Chenchu tribe. This finding, together with the higher R1a-associated short tandem repeat diversity in India and Iran compared with Europe and central Asia, suggests that southern and western Asia might be the source of this haplogroup. Haplotype frequencies of the MX1 locus of chromosome 21 distinguish Koyas and Chenchus, along with Indian caste groups, from European and eastern Asian populations. Taken together, these results show that Indian tribal and caste populations derive largely from the same genetic heritage of Pleistocene southern and western Asians and have received limited gene flow from external regions since the Holocene. The phylogeography of the primal mtDNA and Y-chromosome founders suggests that these southern Asian Pleistocene coastal settlers from Africa would have provided the inocula for the subsequent differentiation of the distinctive eastern and western Eurasian gene pools.     

Mitochondrial DNA polymorphism in populations of aboriginal residents of the Far East

An analysis of mtDNA polymorphism in eight populations of aboriginal residents (N = 519) of the Far East has been performed. The majority of haplogroups revealed in the examined groups were of East Eurasian origin. Haplogroup D was revealed in seven populations and its frequency varied from 2.8% in Koryaks to 28.3% and 28.9% in Nanaians and Evenks, respectively. Chukchi and Koryak populations, which belong to the same language family, exhibited haplogroup G, which has the same motive and indicates the genetic kinship of both populations. The presence of East Eurasian haplogroups A and D with a strong predominance of haplogroup A in Chukchi indicates the closer relationship of this population both with Asian and Canadian Eskimos and northern Atapasks on the other side of Bering Strait. The high level of genetic variability was revealed in populations belonging to the Tungus-Manjur group. The high frequency of east Eurasian haplogroups in Nanaians could result from close historical associations with Siberian Evenks.     

Mitochondrial DNA diversity and population differentiation in southern East Asia

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 Austro-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 haplogroups, 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.     

Mitochondrial DNA polymorphism in Russian population form five oblasts of the European part of Russia

New data on mitochondrial DNA polymorphism among Russian population from five oblasts, located within the main ethnic area of Russians, specifically, Ryazan' oblast, Ivanovo oblast, Vologda oblast, Orel oblast, and Tambov oblast (N = 177) are presented. RFLP analysis of the mtDNA coding region showed that most of the mtDNA diversity in the populations examined could be described by main European haplogroups H, U, T, J, K, I, V, W, and X. Haplogroup frequency distribution patterns in the populations of interest were analyzed in comparison with the European and Uralic populations. Based on the haplogroup frequencies, the indices of intraethnic population diversity, Wright's F(st) statistics, and the values of squared deviation from the mean, as well as genetic distances between Russians and European and Uralic populations were estimated. Analysis of these indices along with the anthropological data provided identification of a number of regional groups within the populations examined, which could either result from the interaction of ancient Slavs with different non-Slavic tribes, or could be caused by the ethnic heterogeneity of the ancient Slavs themselves.     

Mitochondrial DNA Polymorphism in Russian Population form Five Oblasts of the European Part of Russia

New data on mitochondrial DNA polymorphism among Russian population from five oblasts, located within the main ethnic area of Russians, specifically, Ryazan' oblast, Ivanovo oblast, Vologda oblast, Orel oblast, and Tambov oblast (N = 177) are presented. RFLP analysis of the mtDNA coding region showed that most of the mtDNA diversity in the populations examined could be described by main European haplogroups H, U, T, J, K, I, V, W, and X. Haplogroup frequency distribution patterns in the populations of interest were analyzed in comparison with the European and Uralic populations. Based on the haplogroup frequencies, the indices of intraethnic population diversity, Wright's F_st statistics, and the values of squared deviation from the mean, as well as genetic distances between Russians and European and Uralic populations were estimated. Analysis of these indices along with the anthropological data provided identification of a number of regional groups within the populations examined, which could either result from the interaction of ancient Slavs with different non-Slavic tribes, or could be caused by the ethnic heterogeneity of the ancient Slavs themselves.     

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。     

Genetic features of Khoton Mongolians revealed by SNP analysis of the X chromosome

The Khoton Mongolian population is a small and relatively isolated ethnic group residing predominantly in the northwestern part of Mongolia. A recent genetic study of the Y chromosome revealed that the major Mongolian ethnic groups have a relatively close genetic affinity to populations in the northern part of East Asia, while the Khoton population reflected an apparent genetic differentiation from the other Mongolian populations. To further investigate the genetic features of the Khoton and the other Mongolian populations, we analyzed the single nucleotide polymorphisms (SNPs) in the Xq13.3 region, which is thought to have an extremely low level of recombination in the human X chromosome. We found that the frequency distribution of Xq13.3 haplotypes in the Khoton population was substantially different from those in three other Mongolian populations (Khalkh, Uriankhai, and Zakhchin). The same relationship was also revealed by the results from the population tree and principal-component (PC) analysis based on the allele frequencies. These results are largely consistent with the hypothesis that the Khoton population descended from a nomadic tribe of Turkish origin, which has been supported by previous anthropological, historical, and Y-chromosome studies. However, the population structure analysis produced an additional finding, namely, that the Khoton population is likely to be an admixed population.