中国21个人群的遗传拓扑学分析

用脂酶D,酸性磷酸酶,谷丙转氨酶和6—磷酸葡萄糖酸脱氢酶等四个位点的基因频率对中国16个少数民族和5个汉族人群进行了遗传拓扑学分析,绘出了他们地理位置二维同步排序图。根据所得结果,对汉族和16个少数民族的起源,彼此间血缘远近、历史上的迁移等进行了讨论。     

九个汉族群体和四个少数民族群体中腺苷酸激酶的遗传多态性

用淀粉凝胶电泳及特异的染色方法,调查了我国九个汉族和四个少数民族群体的腺苷酸激酶-1(AK1)的遗传多态性在这十三个群体中AK1*2频率都远低于AK1*1频率,未达到0.01的多态水平,分别为：兰州汉族0.0096,郑州汉族0.0023,呼和浩特汉族0.0024,西安汉族0.0025,漳州汉族0.0024,羌族0.0024;而在广东客家人、成都汉族、哈尔滨汉族、贵阳汉族以及哈尼族、瑶族、布依族中均为0。在兰州汉族群体中观察到国内第一例AK1*2-2表型。     

Frequencies of ABO, Rh and Kell phenotypes in couples from Han, Kazak, Uyghur and Hui in Xinjiang: an inheritance simulation model for blood group incompatibility in new-born

The Xinjiang region with residents from more than 13 minorities represents an area of many diverse ethnicities. This ethnic diversity in relation to their blood groups and immune status may have a consequential impact on the clinical status of married couples. To evaluate the risks of haemolytic disease in new-born infants, we investigated the rate of blood-group incompatibility among 487 married couples from four ethnic minorities, namely the Han, Hui, Uyghur and Kazak populations. Han minority married couples showed significantly different ABO, Rh and K phenotype frequencies between marrial relationship, whereas there was no significant difference in ABO, Rh and K phenotypes between the Uyghur, Hui and Kazak .There was a significant difference between ABO blood types in Han married couples, in the Kazak Rh-C phenotype and in the Uyghur Rh-D phenotype. The Hui married couples only demonstrated ABO, Rh and K phenotypes. The Hui minority showed the highest incompatibility rate for Rh-C and Rh-E phenotypes between mothers and their new-born infants. The highest incompatibility rate for the ABO phenotype occurred in the Kazak group. These results particularly demonstrate the clinical issues relating to ABO and Rh incompatibility, in the Kazak and Hui minorities, respectively.     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the ancestors of Southern and Northern Mongoloids had already separated before reaching Asia. The ancestors of the Southern Mongoloids may result from the initial expansion from Africa or the Middle East, via the south coast of Asia, toward Southeast Asia, and ultimately South China. Upon reaching the Yangtze River, they might even have crossed the river to occupy the nearby regions for a period of time. The ancestors of the Northern Mongoloids probably expanded from Africa via the Northern Pamirs, first went eastward, then towards the south to reach the Yangtze River. The expansion of the Northern Mongoloids toward the south of the Yangtze River happened only in the last 2 or 3 thousand years.     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the a     

《生物多样性公约》中“土著和地方社区”术语在中国的适用性和评价指标体系

《生物多样性公约》第8(j)条提出了术语“土著和地方社区”, 《名古屋议定书》关于遗传资源特别是传统知识获取与惠益分享的很多重要条款中都涉及该术语。然而, 二者均未对该术语予以定义, 国际社会对该术语的适用范围至今尚未达成一致, 缔约方只能根据公约文本内涵和各国具体国情予以推断和解读。当前的普遍理解包括殖民主义特征的“狭义土著和地方社区”和仅具有原住民特征的“广义土著和地方社区”两种情况。对于中国而言, “土著和地方社区”是否与中国少数民族社区概念上等同或完全不同, 对于全面履行《生物多样性公约》和《名古屋议定书》具有重要意义。本文通过词源分析、定性和定量化等理论和实证研究, 构建了以少数民族具体地方社区为评估单元的“土著和地方社区特征”评价指标体系, 进而对部分少数民族具体地方社区进行了实际评估。结果表明, 一些至今仍然维持传统生产和生活方式及保留传统文化的少数民族地方社区具有明显的“土著和地方社区”特征, 适用于国际公约的相关规定。这为理解国际上的“土著和地方社区”和中国“少数民族”提供了思路, 为中国履行《生物多样性公约》《名古屋议定书》中涉及“土著和地方社区”的条款提供了技术支持, 也为维护中国少数民族地方社区在遗传资源及相关传统知识获取与公平惠益分享中的应有权益提供了理论基础。     

An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide

The coding regions of many of the major histocompatibility complex (MHC) (human leukocyte antigen [HLA] in humans) molecules are believed to be subject to balancing selection. But it is less certain whether the regulatory regions of such coding sequences are also subject to the same type of selection. Here, we studied the polymorphism of the regulatory regions of the HLA-DPA1 and HLA-DPB1 genes among ethnic minorities in southwestern China. Phylogenetic analysis revealed two deep clades >10 million years old. There is almost complete linkage disequilibrium between the regulatory and coding regions of HLA-DPA1, which hints at coadaptive balancing selection on the entire region. Thus, the molecular mechanism of balancing selection in MHC may involve expression modulation in addition to coding-region polymorphisms. Although the frequency of clade II is >30% in some ethnic minorities, it decreases to <5% among southern Han Chinese and vanishes among Europeans. As suspected, some ancient balanced polymorphisms, lost in major populations, still exist in isolated ethnicities. These isolated populations may thus contribute disproportionately to the total diversity of modern humans.     

福建畲族人群体型特征

史料记载早在唐代以前畲族就居住在粤、闽、赣三省的交界处,现今畲族主要分布在福建、浙江、江西、广东、安徽、湖南、贵州等7个省份,但关于畲族的起源与迁移在学界一直存在较大争议。本研究在福建省福安市和福鼎市随机选取畲族年满18周岁的成人504人(其中男289人,女215人) 测量身高、体质量、肱骨内外上髁间径、股骨内外上髁间径、上臂紧张围、小腿围、肱三头肌皮褶、肩胛下皮褶、髂前上棘皮褶及小腿内侧皮褶等10 项体质指标,利用Heath-Carter 体型法分析福建东部畲族人群的体型,畲族男性平均体型(5.02-3.76-1.76)为偏中胚层的内胚层型,女性平均体型(6.91-3.50-1.23)为偏中胚层的内胚层型。将福建畲族三个因子值与其他少数民族及汉族进行比较,结果显示畲族体型与汉族群体更为接近,其中与闽南语族群汉族、闽东语族群汉族和广西汉族最为相近,与南方少数民族族群反而差异更大,提示在畲族的形成过程与汉族有着很大联系。本研究为畲族族源研究提供生物学方面的参考依据,也为我国人类学研究补充必要的数据和资料。     

A map of copy number variations in Chinese populations

It has been shown that the human genome contains extensive copy number variations (CNVs). Investigating the medical and evolutionary impacts of CNVs requires the knowledge of locations, sizes and frequency distribution of them within and between populations. However, CNV study of Chinese minorities, which harbor the majority of genetic diversity of Chinese populations, has been underrepresented considering the same efforts in other populations. Here we constructed, to our knowledge, a first CNV map in seven Chinese populations representing the major linguistic groups in China with 1,440 CNV regions identified using Affymetrix SNP 6.0 Array. Considerable differences in distributions of CNV regions between populations and substantial population structures were observed. We showed that ～35% of CNV regions identified in minority ethnic groups are not shared by Han Chinese population, indicating that the contribution of the minorities to genetic architecture of Chinese population could not be ignored. We further identified highly differentiated CNV regions between populations. For example, a common deletion in Dong and Zhuang (44.4% and 50%), which overlaps two keratin-associated protein genes contributing to the structure of hair fibers, was not observed in Han Chinese. Interestingly, the most differentiated CNV deletion between HapMap CEU and YRI containing CCL3L1 gene reported in previous studies was also the highest differentiated regions between Tibetan and other populations. Besides, by jointly analyzing CNVs and SNPs, we found a CNV region containing gene CTDSPL were in almost perfect linkage disequilibrium between flanking SNPs in Tibetan while not in other populations except HapMap CHD. Furthermore, we found the SNP taggability of CNVs in Chinese populations was much lower than that in European populations. Our results suggest the necessity of a full characterization of CNVs in Chinese populations, and the CNV map we constructed serves as a useful resource in further evolutionary and medical studies.     

Site-specific genetic divergence in parallel hybrid zones suggests nonallopatric evolution of reproductive barriers

The evolution of reproductive isolation in the presence of gene flow is supported by theoretical models but rarely by data. Empirical support might be gained from studies of parallel hybrid zones between interbreeding taxa. We analysed gene flow over two hybrid zones separating ecotypes of Littorina saxatilis to test the expectation that neutral genetic markers will show site-specific differences if barriers have evolved in situ. Distinct ecotypes found in contrasting shore habitats are separated by divergent selection and poor dispersal, but hybrid zones appear between them. Swedish islands formed by postglacial uplift 5000 years ago provide opportunities to assess genetic structure in a recently evolved system. Each island houses a discrete population containing subpopulations of different ecotypes. Hybrid zones between ecotypes may be a product of ecological divergence occurring on each island or a consequence of secondary overlap of ecotypes of allopatric origin that have spread among the islands. We used six microsatellite loci to assess gene flow and genetic profiles of hybrid zones on two islands. We found reduced gene flow over both hybrid zones, indicating the presence of local reproductive barriers between ecotypes. Nevertheless, subpopulations of different ecotypes from the same island were genetically more similar to each other than were subpopulations of the same ecotype from different islands. Moreover, neutral genetic traits separating the two ecotypes across hybrid zones were site-specific. This supports a scenario of in situ origin of ecotypes by ecological divergence and nonallopatric evolution of reproductive barriers.     

Reduction of sample heterogeneity through use of population substructure: an example from a population of African American families with sarcoidosis

Sarcoidosis is a granulomatous inflammatory disorder of complex etiology with significant linkage to chromosome 5, and marginal linkage was observed to five other chromosomes in African Americans (AAs) in our previously published genome scan. Because genetic factors underlying complex disease are often population specific, genetic analysis of samples with diverse ancestry (i.e., ethnic confounding) can lead to loss of power. Ethnic confounding is often addressed by stratifying on self-reported race, a controversial and less-than-perfect construct. Here, we propose linkage analysis stratified by genetically determined ancestry as an alternative approach for reducing ethnic confounding. Using data from the 380 microsatellite markers genotyped in the aforementioned genome scan, we clustered AA families into subpopulations on the basis of ancestry similarity. Evidence of two genetically distinct groups was found: subpopulation one (S1) comprised 219 of the 229 families, subpopulation two (S2) consisted of six families (the remaining four families were a mixture). Stratified linkage results suggest that only the S1 families contributed to previously identified linkage signals at 1p22, 3p21-14, 11p15, and 17q21 and that only the S2 families contributed to those found at 5p15-13 and 20q13. Signals on 2p25, 5q11, 5q35, and 9q34 remained significant in both subpopulations, and evidence of a new susceptibility locus at 2q37 was found in S2. These results demonstrate the usefulness of stratifying on genetically determined ancestry, to create genetically homogeneous subsets--more reliable and less controversial than race-stratified subsets--in which to identify genetic factors. Our findings support the presence of sarcoidosis-susceptibility genes in regions identified elsewhere but indicate that these genes are likely to be ancestry specific.     

云南“本人”的红细胞血型分布及其与契丹人血缘关系的探讨

调查了云南省施甸县木老元乡哈寨村１０４名“本人”的４个细胞血型系统分布。结果表明,“本人”的ＡＢＯ血型系统分布特点是,基因频率ｐ（０．３０６９）〉基因频率ｑ（０．１７３９）;在ＭＮＳｓ血型系统中,基因频率ｍ（０．６５３８）〉基因频率ｎ（０．３４６２）;在Ｐ血型系统中,基因频率Ｐ１（０．１７９８）较低。这些均与我国南方少数民族的分布特点基本相符。与我国大部分地区一样。Ｒｈ因型系统的单倍型频率中最高的     

Characterization of Fecal Microbiota across Seven Chinese Ethnic Groups by Quantitative Polymerase Chain Reaction

The human gut microbiota consists of complex microbial communities, which possibly play crucial roles in physiological functioning and health maintenance. China has evolved into a multicultural society consisting of the major ethnic group, Han, and 55 official ethnic minority groups. Nowadays, these minority groups inhabit in different Chinese provinces and some of them still keep their unique culture and lifestyle. Currently, only limited data are available on the gut microbiota of these Chinese ethnic groups. In this study, 10 major fecal bacterial groups of 314 healthy individuals from 7 Chinese ethnic origins were enumerated by quantitative polymerase chain reaction. Our data confirmed that the selected bacterial groups were common to all 7 surveyed ethnicities, but the amount of the individual bacterial groups varied to different degree. By principal component and canonical variate analyses of the 314 individuals or the 91 Han subjects, no distinct group clustering pattern was observed. Nevertheless, weak differences were noted between the Han and Zhuang from other ethnic minority groups, and between the Heilongjiang Hans from those of the other provinces. Thus, our results suggest that the ethnic origin may contribute to shaping the human gut microbiota.     

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。     

Genetic polymorphism of mitochondrial DNA HVS-I and HVS-Ⅱ of Chinese Tu ethnic minority group

We analyzed the two hypervariable segments HVS-Ⅰ and HVS-Ⅱ of 108 Chinese Tu ethnic minority group samples for forensic and population genetics purposes.Comparing with Anderson sequence,79 polymorphic loci in HVS-Ⅰ and 40 in HVS-Ⅱ were found in Chi-nese Tu ethnic minority group mtDNA sequences,and 90 and 64 haplotypes were then defined.Haplotype diversity and the mean pair-wise differences were 0.9903±0.0013 and 5.7785 in HVS-Ⅰ,and 0.9777±0.0013 and 3.5819 in HVS-Ⅱ,respectively.By analyzing the hypervariable domain from nucleotide 1,6180 to 1,6193 in HVS-Ⅰ,we defined some new types of sequence variations.We also compared the relationship between Tu population and other populations using mtDNA HVS-Ⅰ sequences.According to Rst genetic distances,the phylogenetic tree showed that the Tu population,the Xi'an Han population,the Chinese Korean,and the Mongol ethnic group were in a clade.This indicated a close genetic relationship between them.There were far relations between the Tu population and other Chinese southern Han populations,Siberian,European,African,and other foreign populations.The results suggest that Tu population has a multi-origin and has also merged with other local populations.     

汉族9个人群AcP_1、EsD及6-PGD的遗传多态性

用淀粉凝胶电泳法对我国汉族９个人群的红细胞酸性磷酸酶（ＡｃＰ１）、酯酶Ｄ（ＥｓＤ）、及６－磷酸葡萄糖酸脱氢酶（６－ＰＧＤ）的遗传多态性进行了研究。研究结果表明：兰州、呼和浩特、哈尔滨、西安、郑州、成都、贵阳、漳州、梅州等９市汉族人群的ＡｃＰＢ１基因频率依次为０．７９２９、０．８１６７、０．７９３８、０．８１３１、０．８０８８、０．８００５、０．７８９６、０．７７９４和０．７６７５;ＥｓＤ１基因频率依次为０．６４７３、０．６１４８、０．６４４３、０．６４３９、０．６４７５、０．６３０５、０．６２８７、０．５９０７和０．５８２５;６－ＰＧＯＡ基因频率依次为０．８８８１、０．９１４３、０．９３３０、０．９３１８、０．８７５６、０．９２１２、０．９１８８、０．９４６１和０．９３７５。ＥｓＤ１基因频率在中国南、北方人群间有差异,北方人群的ＥｓＤ１频率高于南方人群,随着北纬纬度由高向低,汉族人群ＥｓＤ１频率也随着从北向南降低。在中国汉族人群中,ＥｓＤ基因及６－ＰＧＤ基因分化比较显著,而ＡｃＰ基因分化则不显著     

Genetic polymorphism of mitochondrial DNA HVS-I and HVS-Ⅱ of Chinese Tu ethnic minority group

We analyzed the two hypervariable segments HVS-Ⅰ and HVS-Ⅱ of 108 Chinese Tu ethnic minority group samples for forensic and population genetics purposes.Comparing with Anderson sequence,79 polymorphic loci in HVS-Ⅰ and 40 in HVS-Ⅱ were found in Chi-nese Tu ethnic minority group mtDNA sequences,and 90 and 64 haplotypes were then defined.Haplotype diversity and the mean pair-wise differences were 0.9903:±0.0013 and 5.7785 in HVS-Ⅰ,and 0.9777±0.0013 and 3.5819 in HVS-Ⅱ,respectively.By analyzing the hypervariable domain from nucleotide 1,6180 to 1,6193 in HVS-Ⅰ,we defined some new types of sequence variations.We also compared the relationship between Tu population and other populations using mtDNA HVS-Ⅰ sequences.According to Rst genetic distances,the phylogenetic tree showed that the Tu population,the Xi'an Han population,the Chinese Korean,and the Mongol ethnic group were in a clade.This indicated a close genetic relationship between them.There were far relations between the Tu population and other Chinese southern Han populations,Siberian,European,African,and other foreign populations.The results suggest that Tu population has a multi-origin and has also merged with other local populations.     

α_1抗胰蛋白酶遗传类型在七个民族中的分布

调查了α_1-AT遗传类型在东北及内蒙古地区汉、蒙、朝鲜、满、达斡尔、鄂温克、鄂伦春等七个民族中的分布。计算了每个群体中的α_1-AT基因频率,经X~2检测证明七个群体α_1-AT表型分布均符合Hardy-weinberg法则。同时,将各少数民族人群α_1-ATM类型及变异型的基因频率与汉族人群进行了比较。     

Mitochondrial DNA in Basque descendants from the city of Trinidad, Uruguay: Uruguayan- or Basque-like population?

Like other countries in the Americas, during its colonization Uruguay was the recipient of immigrants from several ethnic groups from Europe, as well as of enslaved Africans. After its independence in 1830, Basques were the first group of Europeans to arrive in the country. In this paper, we aim to contribute to the understanding of the process of integration of these migratory waves into the Uruguayan society. For that purpose, individuals of Basque origin from the city of Trinidad, Uruguay, were chosen to participate in this study. Particularly, we wanted to determine if Basque descendants in Uruguay remained relatively isolated or if they mixed with other ethnic groups. Mitochondrial DNA (mtDNA) of 60 self-identified Basque descendants, taken from a larger sample of subjects with Basque ancestors, was analyzed. The origin of mtDNA haplogroups was 77.8% European, 20.4% Amerindian, and 1.8% African, showing similar frequencies to other Uruguayan regions. Very few sequences showed a clear Basque origin, although other sources such as the Canary Islands are likely. Moreover, genetic distances clearly show that Basque descendants are genetically closer to other Uruguayan groups than to European populations, including Basques. It is possible to conclude that Basques and their descendants in the region of Trinidad did not remain isolated and that their marriage behavior was similar to that of other Uruguayan populations. However, to have a more accurate picture of the way Basques intermarried with other populations in Uruguay, new analyses are needed that take into account paternal lineages as well as biparental genetic markers.     

中国九个人群耵聍的遗传多态性

报道了九个人群的耵聍位点基因。计算表明中国各族人群在耵聍位点上的遗传分化程度非常大,固定指数F_(ST)=0.22。本文根据耵聍基因频率在我国和邻近地区的分布趋势,认为亚洲东北地区应是干型基因的起源地,目前世界上耵聍位点基因频率分布格局主要是基因扩散的结果,而非选择作用造成的。