中国云南省五个民族DYS287位点多态性的调查

目的　对中国云南的汉族、傣族、拉祜族、佤族、藏族5 个群体的DYS287 位点多态性进行筛查。方法　利用PCR法对此位点进行扩增,经过琼脂糖凝胶电泳检测结果。结果　汉、傣、拉祜、佤族均为YAP- ,扩增片段均为 150bp,而 30 个藏族人中有11 个为 YAP ,扩增片段为 455bp,YAP 频率达36.7% 。结论　DYS287 位点可以作为一种重要、稳定的遗传标记对遗传多样性研究提供可靠的证据。     

Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal

 Two sets of mitochondrial DNA (mtDNA) hypervariable segment I (HVS-I) data from four ethnic populations (Tibetan, Va, Dai, and Lahu) from Yunnan Province, China, were analyzed here by using phylogeographic methods. The results suggest that more attention should be paid to sampling methodology when addressing the genetic relationship and affinity among ethnic populations. Comparison of related data from different labs may serve as a check for the credibility of the data and will help discern the origin of the ethnic populations. Generally, Tibetan populations have more north-prevalent haplogroups (clades of the mtDNA phylogeny), while Dai and Lahu populations have high frequencies of south-prevalent haplogroups. The Vas, although autochthonous according to historical records, show signs of gene admixtures from northern and southern populations, for they harbor high frequencies of the south-prevalent haplogroup F and the north-prevalent haplogroup D as well as other northern mtDNA lineages such as M9 and G2a. The consanguineous marriage customs of the Lahu, together with possible genetic drift during this group's historical migration, left a conspicuous genetic imprint on its current gene pool. Received: February 8, 2002 / Accepted: March 7, 2002     

Mitochondrial DNA polymorphisms in Thailand

Nucleotide sequences of the D-loop region of human mitochondrial DNA from six small ethnic groups of Thailand i.e., Hill tribes (Lisu and Mussur), Phuthai, Lao Song, Chong, and aboriginal Sakai, were analyzed. The sequences were compared with those of native Thai populations from two provinces, Chiang Mai and Khon Kaen. Based on a comparison of the 563-bp sequences in 215 Thai individuals, 137 different sequence types were observed. Of these, 124 were unique to their respective populations, whereas 13 were shared between two to five populations. The intergenic COII/tRNA^Lys 9-bp deletion was observed in every Thai population examined, except for the Sakai, with varying frequencies ranging from 18% to 40%. The D-loop sequences variation, and phylogenetic analysis, suggested that the 9-bp deletion had occurred in a very ancient ancestry of Southeast Asians, although multiple origins of the deletion cannot be ruled out. Genetic distances, based on net nucleotide diversities, between populations revealed that the Sakai were distantly related to the other Thai populations, while the Lao Song and Chong were closely related to each other. Close genetic affinities were also observed among the Hill tribes, Phuthai, and native northeast Thai (Khon Kaen), indicating that they may share some degree of the common ancestral maternal lineages. Received: October 23, 2000 / Accepted: December 4, 2000     

Comparative analysis of the complete mitochondrial genome between Tibetan and Han population

OBJECTIVE: To construct the haplogroup and perform an analysis of mitochondrial whole-genome sequence in Tibetan and Han Chinese. Variations of nucleotide of mitochondrial DNA (mtDNA) were identified and compared between the Tibetan and Han population. METHODS: The mtDNA whole sequences of 40 Tibetan and 50 Han individuals were sequenced by an Applied Biosystems 3730 DNA automatic sequencer. The sequences were assembled using software phredPhrap16.0, and all assembled sequences were manually verified according to the criterion of rCRS (revised Cambridge Reference Sequence). The haplogroups of mtDNA were constructed using phylogenetic analysis according to the criteria of MITOMAP by Network method. The data were elucidated by integrated methods. RESULTS: Authors' results showed that all the pooled 90 subjects belonged to the Macrohaplogroup M and N, and were classified into 13 haplogroups. No differences were observed among the haplogroups of the two populations except for M9 haplogroup. A total of 21 variants were detected by comparing the mtDNA whole sequences between Tibetan and Han population; of those, 5 variants have not been reported before. In addition, we constructed the haplotypes of 5 variants harboring the D-loop region, and founded prominent difference in both supertype 1 and supertype 2 between Tibetan and Han population. CONCLUSION: The phylogenetic analysis indicates that the Tibetan and Han ethnic groups shared close maternal relationship in origin. The biological implication of the significant variants is worth elucidating; whether they are the results of adaptive selection or neutral selection or pathological variations need to be further studied.     

载脂蛋白E基因多态性在云南省德宏州傣族人群的分布

目的　探讨云南省德宏州傣族人群和昆明汉族人群载脂蛋白E(apolipoprotein E,apo E)基因多态性分布情况。方法　收集171名德宏傣族和71名昆明汉族人群基因组,通过聚合酶链反应-限制性片段长度多态性方法检测apo E基因第4外显子第112位和15 8位的多态性。结果　傣族组apo Eε2 / 2、ε2 /3、ε2 / 4、ε3/ 3、ε3/ 4、ε4 / 4基因型频率依次为:0 .0 0 6、0 .111、0 .0 0 6、0 .789、0 .0 88、0 .0 0 0 ;汉族组依次为:0 .0 0 0、0 .16 9、0 .0 14、0 .718、0 .0 99、0 .0 0 0。apo Eε2、ε3、ε4等位基因频率在傣汉两民族中依次为:0 .0 6 4、0 .889、0 .0 4 7;0 .0 92码、0 .85 2、0 .0 5 6 (P>0 .0 5 )。结论　apo E基因型频率和等位基因频率均存在着民族、种族差异。与国内其它少数民族比较,德宏傣族人群apo Eε2等位基因频率显著低于壮族(P<0 .0 1) ;ε3等位基因频率显著高于朝鲜族、回族、蒙古族、壮族(P<0 .0 5 ) ,极显著高于维吾尔族(P<0 .0 1) ;ε4等位基因显著低于鄂伦春族(P<0 .0 5 ) ,极显著低于维吾尔族、鄂温克族(P<0 .0 1)。与不同种族人群比较,德宏傣族人群apo E基因多态性分布与日本人接近(P>0 .0 5 ) ,而与新加坡、欧美国家人群有较大的差异性。     

HLA-DPA1 promoter haplotypes are differently distributed in southern Chinese ethnic groups

DPA1 gene is one of the human leukocyte antigen (HLA) class II genes and its promoter is highly polymorphic. From comparative studies among five southern Chinese populations, Jing, Li, Bai, Lahu, and Meizhou Han, we describe their single-nucleotide polymorphism (SNP)/haplotype frequency data of HLA-DPA1 gene promoter in this study. Within the 760-bp promoter region, we have identified 21 SNPs and nine possible haplotypes. Pair-wise comparisons show similar frequencies distribution of the HLA-DPA1 promoter haplotypes among Jing, Li, and Bai, whereas all pair-wise comparisons involved with Lahu or Meizhou Han and other ethnic groups show remarkable difference. The differences in frequencies of HLA-DPA1 promoter alleles may reveal different ethnic origins and demographic histories of the five populations. Our study may help distinguishing each of these populations by sequence variations of HLA-DPA1 promoter, which may be served as functional molecular markers for clinical and immunological studies involving the DPA1 locus.     

24个群体11个Y-STR基因座单倍型遗传关系的聚类分析

目的 选择具有高度遗传多态性与稳定性的11个Y-STR基因座,从父系遗传角度探讨24个群体的分子遗传学关系.方法 应用PowerPlex(R)Y System荧光标记复合扩增系统检测204名回族、280名锡伯族、203名满族、215名重庆土家族无关男性个体血样,用ABI310遗传分析仪进行基因分型,计算等位基因和单倍型频率,并结合已公开发表的国内外其他20个群体相同基因座的单倍型数据,计算各群体间的遗传距离Rst,进行聚类分析,并采用Neighbor-Joining法重建系统发生树.结果 不同群体特定Y-STR的单倍型频率和遗传距离存在差异;聚类分析与系统发生树结果一致,12个汉族群体主要分为南北两类,云南和四川汉族与北方汉族遗传距离较近(0.002 3、0.000 6);沈阳回族群体自成一类,其他少数民族彼此独立分支,其中朝鲜族与韩国、日本遗传距离较近(0.013 3、0.041 3).结论 24个群体之间存在一定的基因交流,个别少数民族相对独立;研究特定Y-STR单倍型数据的遗传距离对了解各群体的起源、迁移以及相互关系有重要的意义.     

24个群体11个Y-STR基因座单倍型遗传关系的聚类分析

目的 选择具有高度遗传多态性与稳定性的11个Y-STR基因座,从父系遗传角度探讨24个群体的分子遗传学关系.方法 应用PowerPlex(R)Y System荧光标记复合扩增系统检测204名回族、280名锡伯族、203名满族、215名重庆土家族无关男性个体血样,用ABI310遗传分析仪进行基因分型,计算等位基因和单倍型频率,并结合已公开发表的国内外其他20个群体相同基因座的单倍型数据,计算各群体间的遗传距离Rst,进行聚类分析,并采用Neighbor-Joining法重建系统发生树.结果 不同群体特定Y-STR的单倍型频率和遗传距离存在差异;聚类分析与系统发生树结果一致,12个汉族群体主要分为南北两类,云南和四川汉族与北方汉族遗传距离较近(0.002 3、0.000 6);沈阳回族群体自成一类,其他少数民族彼此独立分支,其中朝鲜族与韩国、日本遗传距离较近(0.013 3、0.041 3).结论 24个群体之间存在一定的基因交流,个别少数民族相对独立;研究特定Y-STR单倍型数据的遗传距离对了解各群体的起源、迁移以及相互关系有重要的意义.     

西藏现代藏族人颅的颅型及其特点

测量７０个西藏现代藏族人颅４０项指标；计算指数１６项；根据指数确定颅型，额型，颌型，眶型，鼻型与腭型；进行数理统计；观察性别差异，发现男发性间各测量值差显著，     

海南汉族、黎族人群葡萄糖—6—磷酸脱氢酶基因的1376G→ …

目的 了解海南汉族、黎族人群Ｇ６ＰＤ缺乏症患者的Ｇ６ＰＤ基因１３７６Ｇ→突变。方法 用盐提取法提取Ｇ６ＰＤ缺乏症患者白细胞的ＤＮＡ,用等位基因特异聚合酶链反应检测１３７６Ｇ→Ｔ突变。结果在分析的５９例汉族患者和３２例黎族患者中,１９例汉族患者和１８例黎族患者有Ｇ６ＰＤ基因１３７６Ｇ→Ｔ突变,该突变在汉族、黎患者中所占的比例分别为３２．２％和５６．２％。结论 Ｇ６ＰＤ基因１３７６Ｇ→Ｔ是引起海南黎族     

藏汉民族线粒体基因组全序列的比较研究

目的 以藏汉民族线粒体基因组全序列为基础,进行Haplogroup构建和系统发生分析,在全序列水平上比较核苷酸的变异,阐释可能的变异机制和蕴含的生物学意义.方法 采用Applied Biosystems 3730DNA自动测序仪分别对40名藏族和50名汉族的标本进行线粒体DNA序列测定,应用phredPhrap 16.0软件进行全序列拼接,并以rCRS(revised Cambridge Reference Sequence)为标准与测定序列进行比对分析;根据MTTO-MAP的标准,通过Network方法进行Haplogroup构建和系统发生的分析,并结合其它方法对产生的数据进行深入解读.结果 数据分析结果显示:在系统发生上,藏汉民族90个线粒体DNA序列归类到13个Haplogroups,除M9以外,其它各Haplogroup出现频率之间比较差异无统计学意义;通过两个民族的线粒体DNA全序列比对,发现21个分布频率有统计学意义的变异位点,其中的5个为新变异位点;另外,对D-Loop区的5个突变位点进行了单倍型构建,90个标本可分为2种Supertype,发现在藏汉民族之间Supertypel和Supertype 2的分布频率均有统计学意义.结论 藏汉民族在种族起源和系统发生上具有较近的母系遗传关系;在全序列有统计学意义的位点究竟是适应性或者中性选择,抑或是一种病理性突变尚需深入的探讨.     

三个群体MICA基因外显子2、3和4的多态性研究

目的 调查上海地区汉族、云南傣族和新疆维吾尔族3个群体MICA基因外显子2、3和4的多态性。方法 采用聚合酶链反应－序列特异的寡核苷酸探针杂交（polymerase chain reaction and sequence-specific oligonucleotide robing,PCR-SSOP）方法，分析183名汉族、41名傣族和66名维吾尔族正常人群的MICA胞外区等位基因多态性。结果 分别在汉族、傣族和维吾尔族中检测出10、7和9个MICA等位，其中MICA^*008在汉族和维吾尔族中频率最高，而傣族中MICA^*010的频率最高。3个民族MICA等位基因分布方式各不相同，而且维吾尔族的等位基因分布与另外两个民族相比，差异具有显著性。结论 MICA等位基因分布方式具有民族地区特异性。     

西藏藏族现代人颅骨40项指标的测量

测量西藏现代藏族人颅７０个；每个颅均测直线距离３２项，投影距离８项共４０项，计算指数１６项；对所有数据进行统计学处理；并观察性别差异及藏族与汉族、壮族人颅之间的差异，发现男女性间各测量值差异显著，藏族人脑颅在长径和宽径上都大于汉族和壮族，高径则小于汉族和壮族。     

不同海拔高度低氧环境差异对EPAS1基因多态性的影响

目的 研究不同海拔高度的低氧环境差异对内皮PAS蛋白1基因(endothelial PAS domain protein 1,EPAS1)的选择作用.方法 选取西藏藏族58名(居住海拔约3700米)、青海藏族47名(居住海拔约3100米)、云南藏族43名(居住海拔约2500米)、山东汉族47名(居住海拔约50米)的4个不同海拔高度的群体,应用限制性片段长度多态性-聚合酶链反应技术检测EPAS1基因的14个单核苷酸多态性位点.结果 在4个群体中,山东汉族、云南藏族与西藏藏族、青海藏族在大部分位点的等位基因频率、基因型频率以及单倍型频率的差异具有统计学意义;但在山东汉族与云南藏族之间的差异无统计学意义.结论 海拔高度不同引起的低氧环境差异有可能对基因EPAS1有选择作用.     

云南籍G6PD缺乏症病例的基因型分析

目的：确定23例云南籍G6PD缺乏症病例的基因突变类型,了解G6PD基因突变的分子遗传特性。方法：运用扩增阻滞突变系统、自然及错配引物PCR／限制性酶切、PCR－单链构象多态分析及DNA自动测序技术,检测分析了23例云南G6PD缺乏症病例第2－12共11个G6PD基因外显子和部分内含子的基因突变。结果：23例中共发现5种突变,形成了5种突变基因型：G487A10例（7例汉族、3例傣族）、IVS－11T39C复合C1311T7、IVS－5636或637T→del4例、G871A1例、G487A／T93C／C1311T1例。云南人群中存在93C／1311T、487A／93C／1311T两种单体型。IVS－11T93C突变产生的多态性NlaⅢ酶切位点与1311T呈现紧密关联。首次报道了IVS－5636或637T→del在中国人群中、G871A在中国大陆地区以及G487A在云南汉族的存在。结论：云南省G6PD缺乏症具有明显的异质性;G487A突变是该地区的常见G6PD基因突变,并可能有不同的起源;IVS－11T93C突变可能起源于非洲以外地区,并与C1311T共同作用而导致G6PD活性降低。G6PD基因突变型研究对疾病防治、民族起源及迁移等研究具有重要价值。     

The distribution of Y chromosome haplogroups in the nationalities from Yunnan Province of China

The genetic structure of 26 identified nationalities from Yunnan Province of China was studied using Y chromosome haplogroups. A total of 12 haplogroups were obtained in 1214 male samples from all the nationalities. The genetic relationships among 26 nationalities were studied. The ethnic groups were compared according to their different ancient lineages. The ancient lineages had their own characteristics in the distribution of Y chromosome haplogroups. Our results showed that Yunnan Province has great genetic diversity in its people. The ethnic groups differ from each other in the number of haplogroups and haplogroup frequencies. The genetic evidence was in agreement with the study of linguistic and historical records.     

Frequencies of the major alleles of the Diego, Dombrock,Yt, and Ok blood group systems in the Chinese Han, Hui, and Tibetan nationalities

The frequencies of the major alleles of the Diego,Dombrock,Yt,and Ok blood group systems in the Chinese Han, Hui, and Tibetan nationalities were determined using a DNA-based PCR-sequence-specific primers (SSP) genotyping technique. The frequencies of Dia, Dib, Doa, and Dob genes were 0.0295, 0.9705, 0.1159, and 0.8841 in 220 Chinese North Han, respectively. The Yta gene frequencies were 0.9928, 0.9917, and 0.9983 in 277 Han, 300 Hui, and 303 Tibetan blood donors, respectively. No Ok(a-) individuals were found in 304 Han, 300 Hui, and 303 Tibetan individuals.     

Phylogenetic analysis of Ostreococcus virus sequences from the Patagonian Coast

A phylogenetic analysis of new Ostreococcus virus (OV) sequences from the Patagonian Coast, Argentina, and homologous sequences from public databases was performed. This analysis showed that the Patagonian sequences represented a divergent viral clade and that the rest of OV sequences analyzed here were clustered into six additional phylogenetic groups. Analyses of 18S gene libraries supported a close relationship of the Patagonian Ostreococcus host with clade A sequences described elsewhere, corroborating previous studies indicating that clade A strains are ubiquitous. Besides the Patagonian OV sequences, several phylogenetic groupings were linked to particular geographic locations, suggesting a role for allopatric cladogenesis in viral diversification. However, and in agreement with previous observations, other viral lineages included sequences with diverse geographic origins. These findings, together with analyses of ancestral trait trajectories performed here, are consistent with an evolutionary dynamics in which geographical isolation has a role in OV diversification but can be followed by rapid dispersion to remote places.     

Y-STR polymorphisms among five Chinese minorities, Mosuo, Mongolian, Naxi, Pumi and Tibetan, in Yunnan Province, PR China

Two hundred and thirty samples from five minority populations resident in Yunnan Province, PR China (the Mosuo, Mongolian, Naxi, Pumi and Tibetan communities) were analysed at eight polymorphic Y chromosome short tandem repeats (Y-STRs) loci. A total of 59 alleles were identified, with the largest number (n = 44) in the matriarchal Mosuo community. Two or three Y alleles were specific to each population. One hundred and thirty-five haplotypes were constructed, with 45 haplotypes in Tibetans, 34 in the Mosuo, 29 in Mongolians, 26 in the Pumi and 17 in the Naxi. The Tibetan and Mosuo peoples were closest in the neighbour-joining tree, whereas the Mongolians differed from the other four populations, reflecting their origins and present-day geographical location in Yunnan.     

广西金秀瑶族CSFlPO、TPOX和TH01的多态性

目的了解广西金秀瑶族CSF1PO、TPOX、TH01的群体遗传多态性,探讨该民族的变迁及为法医学鉴定提供数据。方法广西金秀瑶族无相关个体血样175例,用Chelex-100方法提取DNA,应用AmpFISTRIdentifilerTMkit荧光标记复合PCR扩增技术对175例血样提取样本DNA3个STR基因座进行扩增,用ABIPrism3100型遗传分析仪对扩增产物进行电泳,然后用GeneScanAnalysis3.7和Genetyper3.7软件对基因进行分析。结果在3个位点中共检测出19种等位基因,基因频率分布在0.0029～0.5514之间;44种基因型,其频率分布在0.0054～0.3657之间。经检验该3个位点的基因型分布均符合Hardy-Weinberg平衡定律。广西金秀瑶族3个STR基因座的杂合度分布在0.5657～0.7257之间,个体识别力分布在0.7241～0.8567之间,累积个体识别力为0.9942,非父排除率在0.3658～0.5644之间,累积非父排除率0.8743,多态信息量分布在0.3042～0.7178;该群体与广西侗族、水族、苗族、毛南族等相邻的少数民族有较近的血缘关系,与广西壮族和汉族的关系相对较远。结论广西金秀瑶族该3个STR基因座分布有较高的多态性,可用于民族遗传学的研究和法医学鉴定。