中国云南白族和新疆维族7个Y-STR基因座的遗传多态性

利用AB I3100遗传分析仪, 我们调查了7个Y-STR基因座构成的单体型在中国云南白族133例和新疆维族105例无关男性个体中的分布。7个Y-STR基因座包括DYS456、DYS464 a/b/c/d、DYS527 a/b、DYS531、DYS709、DYS448和DYS522。结果显示,云南白族和新疆维族2个民族男性群体中,分别观察到133、105种单体型, 均为仅观察到1次的单体型,单体型多样性(HD)均趋近于1, 比较这种单体型在两个群体中的分布差异,显示有统计学显著意义(秩和检验: P<0.001)。中国云南白族和新疆维族7个Y-STR基因座具有较高的多态性, 为法医学实践和群体遗传学的研究提供了有用的基础资料。     

9号染色体10个STR基因座的遗传制图

运用小规模实验初步探讨了以中国人群为基础的遗传图绘制工作的必要性。18个无关汉族3代家系共131份血样采自甘肃省白银地区,常规PCR扩增9号染色体的10个STR基因座,采用非变性聚丙烯酰凝胶电泳分析。PCR产物经克隆测序确定核心序列重复次数,采用标准命名法命名各等位基因,用POPGENE软件包计算各基因座等位基因频率,并进行Hardy-Weiberg平衡检验,用Linkage软件包进行各基因座之间连锁关系分析。根据连锁分析结果绘制了中国人群由10个STR基因座构成的9号染色体遗传图。基于中国人群体的9号染色体10个STR连分析锁分析结果与GDB检索结果之间存在较显著的差异,这种差异同时表现在个别基因座之间和0号染色体遗传图总长度上。男、女遗传结果之间在较显著的差异,这种差异同时表现在个别基因之间和9号染色体总长度上。男、女遗传图总长度为129．21cM和178．4cM,均大高加索入。说明了在运用GDB数据之前,有必要根据实验群体进行基因座的初步评估,并且有必要对基于中国人群体的遗传图进行进一步的研究。     

湖南省汉族人群15个STR基因座多态性分析

应用美国AmpFISTR Indentifiler荧光标记复合扩增试剂盒,结合PE9700型PCR仪和美国ABI公司310型遗传分析仪,对湖南汉族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、vWA、TPOX、D18S51、D5S818和FGA共15个STR基因座进行多态性调查分析．结果显示15个STR基因座的基因型分布符合Hardy．Weinberg平衡。其杂合度（H）介于0．593～0．900,多态信息含量（PIC）介于O．54～0．85,个体识别力（DP）介于0．780～0．963,非父排除率（PE）介于0．282～0．785,累计个体识别力为（1～1．6&#215;10^-17）〉0．99999999。累计非父排除率为0．9999995．证明15个STR基因座在湖南省汉族人群中具有较高的多态性。可应用于该地区群体学研究、法医学个体识别和亲权鉴定等．     

陕西省汉族人群11号染色体10个STR基因座的遗传多态性研究

为了分析陕西汉族人群中11号染色体上10个短串联重复序列(short tandem repeat, STR)基因座的多态性,采用荧光标记基因扫描方法,对11号染色体上的D11S1760、D11S4102、D11S4116、D11S4207、D11S4162、D11S914、D11S4127、D11S917、D11S4146和^D11S915基因座的遗传多态性进行分析。结果显示：D11S1760、D11S4102、D11S4116、D11S4207、D11S4162、D11S914、D11S4127、D11S917、D11S4146和D11S915基因座分别检出17、11、15、11、4、6、7、12、11和13个等位基因,41、18、36、30、8、10、16、30、29和32个基因型,等位基因型符合Hardy-Weinberg平衡（P>0.05）。其杂合度分别为86.72%、67.95%、83.90%、85.96%、58.18%、57.63%、72.60%、72.73%、77.87%和86.40%,表明11号染色体上的这10个STR基因座在汉族人群中有较好的多态性,是理想的遗传标记物。     

北京地区汉族人群21号染色体上5个STR基因座的遗传多态性

阐明21号染色体上唐氏综合征关键区域内或附近的5个STR基因座（D21S1413、D21S1446、D21S1437、D21S1411、D21S1412）在北京地区汉族人群中的结构特征和群体遗传学数据。Chelex法提取血DNA,PCR扩增后,应用聚丙烯酰胺凝胶电泳和银染法或基因片段扫描检测法进行STR分型,测序后确定STR基因座的主型和进行等位基因的命名。结果该5个STR基因座具有简单重复序列和遗传多态性,杂合度和多态信息含量高。它为唐氏综合征的基因诊断和产前基因诊断提供理论依据,也为这些遗传标记在我国人群中进行亲子鉴定和个体识别提供概率计算依据。Abstract: To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database,EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection. The five STR loci consist of simple repeat motif and its distributions of genotypes are agreement with Hardy–Weinberg equation. Its polymorphism information content is all over 0.50. The obtained data can not only be used as evidences for genetic diagnosis of Down Syndrome, but also for calculating the probabilities in the paternity test and individual identification.     

陕西汉族人群12号染色体上7个STR基因座的遗传多态性分析

分析了中国汉族人群中12号染色体上7个短串联重复序列（short tandem repeat,STR）基因座的多态性。 采用荧光标记基因扫描对12号染色体上D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682基因座在80名陕西咸阳、榆林汉族人中的遗传多态性进行分析。结果在中国汉族人群中, D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682基因座分别检出7、10、8、8、6、9和11个等位基因,10、17、18、18、14、18和26个基因型,杂合度分别为44.28％、66.10％、78.89％、77.89％、73.69％、74.55％和82.39％。表明这7个STR基因座在中国人群中有较好的多态性,其基因型分布均符合Hard－Weinberg平衡（P>0.05）。     

云南泸西汉族17个Y-STR基因座多态性及遗传关系分析

调查云南泸西县汉族群体17个Y-STR基因座的多态性分布, 探讨其群体遗传学及法医学应用价值。应用AmpF?STR?Yfiler荧光标记复合扩增系统扩增156名汉族无关男性个体的17个Y-STR基因座, 用ABI3100遗传分析仪进行基因检测, 计算等位基因及单倍型频率, 并结合已公开发表的国内外其他16个群体的遗传学资料, 分析各群体间的遗传距离。云南泸西汉族男性群体中, 共观察到154种单倍型, 其中152种为仅观察到1次的单倍型, 2种单倍型观察到2次, 单倍型多样性(HD)值为0.9998, 基因多样性(GD)值在0.3901(DYS437)—0.9632(DYS385a/b)。17个群体遗传距离分析提示, 国内人群云南泸西汉族与湖南汉族的遗传距离最小(0.005), 与闽南汉族的遗传距离最大(0.035); 在中国周边群体中,云南泸西汉族与新加坡华人的遗传距离最小(0.015), 与日本人和马来西亚印度人群的遗传距离最大(0.060)。结果表明, 17个Y-STR基因座在云南泸西汉族中具有较高的遗传多态性, 适用当地的法医学应用。与其他民族群体的遗传多样性比较, 对了解各群体的起源、迁徙及相互关系有重要意义。     

新疆维吾尔族四个STR位点遗传多态性分析

研究新疆维吾尔族人群D16S539、D13S317、D7S820和D5S818的STR基因位点的基因及基因型分布,获得4个基因座的群体遗传学数据。采用PCR扩增技术和基因扫描技术进行样本STR遗传结构分析,并与其他种族、人群的等位基因频率进行比较。结果表明4个基因位点在新疆维吾尔族人群中均具有遗传多态性。4个基因座的基因型分布均符合Hardy-Weinberg平衡定律（P＞0.05）,不同人群基因频率分布存在一定的差异,所得到的等位基因频率等数据可为遗传学研究、法医个体畜产品识别及亲子鉴定提供依据。     

云南汉族群体FIBRA、DHFRP2、ACTBP2基因座多态性及其法医学应用

采用Amp-FLP分型方法,调查云南汉族群体FIBRA、DHFRP2、ACTBP2基因座的遗传多态性,并将其应用于法医学实践。200份EDTA抗凝血采自昆明地区无血缘关系汉族个体,采用酚—氯仿法提取DNA;法医物证实际检案及亲子鉴定检材取自昆明医学院法医系物证教研室检案,各种动物血痕取自动物中心,采用酚—氯仿法或Chelex法提取DNA,PCR扩增,非变 性聚丙烯酰胺凝胶垂直板电泳,硝酸银染色分型。结果表明,FIBRA、DHFRP2、ACTBP2基因座分别观察到15、7、13个等位基因,基因型数分别是57、25、61。3个STR基因座的杂合度（H）分别为：0.8940、0.8174、0.9130;多态信息容量（PIC）分别是:0.8908、0.8045、0.9117;个人识别力（Dp）分别是：0.9733、0.9416、0.9772;非父排除率（Epp）分别是：0.7994、0.6542、0.8348,基因型频率分布均符合Hardy-Weinberg平衡。20个家系调查结果表明,3个基因组均符合孟德尔遗传规律。 Genetic Polymorphism of FIBRA,DHFRP2 and ACTBP2 and Their Forensic Application in Yunnan Han Population JING Qiang,NIE Sheng-jie Department of Forensic Medicine,Kunming Medical College,Yunnan Province 650031,China Abstract:To investigate the genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 in Yunnan Han population as well as their application in forensic science,EDTA-blood specimens were collected from 200 healthy individuals.The DNA were extracted either by the Chloro form,phenol method or by the Chelex-100 method.The PCR products were analyzed by PAG vertical electrophoresis,following by silver staining.All gene frequencies,discrimination power (DP),exclusion of paternity probability (EPP),heterozygosity (H),polymorphisms information content (PIC),matching probability (PM) as well as the Hardy-Weinberg test were calculated.The obtained data are beneficial in the understanding of population genetics of the three STR loci in Yunnan Han population and the results suggest that these loci are valuable genetic markers for paternity testing and personal identification in forensic science practice. Key words：short tandem repeat; Amp-FLP; genetic polymorphism     

湖南土家族群体X染色体10个STR位点的遗传多态性及法医学应用价值评估

对198名湖南土家族健康无关个体抽取静脉血, 提取DNA, 经PCR扩增, 变性聚丙烯酰胺凝胶电泳, 银染进行等位基因分型; 软件SPSS13.0计算各位点基因型频率和等位基因频率, 进行Hardy-Weinberg平衡检验, 并检验基因分布差异有无统计学意义; Fstat软件计算基因多态性及固定指数; Powerstats软件计算各种法医学应用指标。在湖南土家族群体中, 共检出65个等位基因, 频率分布在0.0048～0.6170之间; 10个X-STR位点中DXS6789、DXS6799、HPRTB位点的多态性和分化程度较低; DXS7133、DXS7423位点的法医学应用价值较低; 位点比较中, 湖南土家族群体与德国、意大利群体的差异最明显。DXS6804、DXS7132、DXS7130、DXS8378、DXS6789、DXS6799、DXS7424、HPRTB等8个位点在湖南土家族群体的个体识别和女孩的亲权鉴定中有应用价值, 对疾病相关研究有实际意义; 差异性检验结果揭示高加索人种与蒙古人种间存在着较大的差异性。     

Genetic polymorphisms of 10 X-STR among four ethnic populations in northwest of China

In the present study, 10 short tandem repeats (STR) (HPRTB, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, DXS7424, and DXS8378) on X chromosome were investigated among four ethnic populations (431 individuals) in northwest of China, in order to learn about the genetic diversity, forensic suitability, and possible genetic affinities of the populations. The polymorphism information content (PIC) values for the ten loci range from 0.340 to 0.810, and the observed heterozygosity values for the ten loci range from 0.397 to 0.860, the results indicated that the ten loci have a moderate degree of variability in the four populations, and each population has its own characteristics of genetic structure. A Neighbor-joining (NJ) tree constructed on the basis of the generated data shows very low genetic distance between Han, Mongolian and Tibetan, Dongxiang and Tu as well as between Salar and Bonan populations. Our results based on genetic distance analysis are consistent with the results of earlier studies based on linguistics and the immigration history and origin of these populations. These STR loci on the X chromosome studied here are not only useful in showing significant genetic variation between the populations, but also are suitable for human identity testing among the four populations.     

Genetic polymorphisms of nine X-STR loci in four population groups from Inner Mongolia, China

Nine short tandem repeat （STR） markers on the X chromosome （DXS101, DXS6789, DXS6799, DXS6804, DXST132, DXST133, DXS7423, DXS8378, and HPRTB） were analyzed in four population groups （Mongol, Ewenki, Oroqen, and Daur） from Inner Mongolia, China, in order to learn about the genetic diversity, forensic suitability, and possible genetic affinities of the populations. Frequency estimates, Hardy-Weinberg equilibrium, and other parameters of forensic interest were computed. The results revealed that the nine markers have a moderate degree of variability in the population groups. Most heterozygosity values for the nine loci range from 0.480 to 0.891, and there are evident differences of genetic variability among the populations. A UPGMA tree constructed on the basis of the generated data shows very low genetic distance betweent Mongol and Han （Xi＇an） populations. Our results based on genetic distance analysis are consistent with the results of earlier studies based on linguistics and the immigration history and origin of these populations. The minisatellite loci on the X chromosome studied here are not only useful in showing significant genetic variation between the populations, but also are suitable for human identity testing among Inner Mongolian populations.     

中国甘肃裕固族X-STR遗传多态性及其应用研究

为研究中国甘肃裕固族人群X染色体STR基因座的遗传多态性及其在群体遗传学中的应用, 采用PCR扩增, 变性聚丙烯酰胺凝胶电泳结合银染显带技术, 检测120名(女55, 男65)裕固族无关个体9个X-STR基因座(DXS7130、DXS7132、DXS6804、DXS7423、DXS7424、DXS6789、DXS6799、DXS8378和HPRTB)的等位基因频率及基因型分布, 以及存在连锁的X-STR基因座的单体型多态性; 同时, 利用X-STR构建系统发生树和进行聚类分析, 分析裕固族与我国其他民族的群体遗传关系。结果发现, DXS7130、DXS7132、DXS6804、DXS7423、DXS7424、DXS6789、DXS6799、DXS8378和HPRTB基因座分别检出8、6、6、5、6、7、6、4、6个等位基因和16、14、13、6、13、20、11、6、12种基因型, 9个X-STR基因座女性的基因型频率分布均符合Hardy-Weinberg平衡(P>0.05)。由DXS7130和DXS8378基因座组成的单体型共检出15种, 由DXS6789、DXS6799、DXS7424和DXS6804基因座组成的单体型共检出55种, 单体型多样性分别为0.8212和0.9947。群体遗传多态性指标显示上述9个X-STR基因座均具有较高多态性, 在法医学个体识别、亲权鉴定及群体遗传学研究中有重要应用价值。对裕固族与我国其他民族群体遗传关系的研究结果显示, 裕固族与蒙古族及同处西北的汉族、藏族关系较近, 而与回族、维族关系较远, 提示裕固族是一个在起源上与蒙古族、汉族以及藏族关系密切的民族群体。     

Genetic structure of four socio-culturally diversified caste populations of southwest India and their affinity with related Indian and global groups

Background  

A large number of microsatellites have been extensively used to comprehend the genetic diversity of different global groups. This paper entails polymorphism at 15 STR in four predominant and endogamous populations representing Karnataka, located on the southwest coast of India. The populations residing in this region are believed to have received gene flow from south Indian populations and world migrants, hence, we carried out a detailed study on populations inhabiting this region to understand their genetic structure, diversity related to geography and linguistic affiliation and relatedness to other Indian and global migrant populations.     

Alleles at four HLA class II loci determined by oligonucleotide hybridization and their associations in five ethnic groups

The use of polymerase chain reaction (PCR) and oligonucleotide hybridization offers a new approach for the definition of HLA class II alleles. It has been possible to determine 43 alleles of DRB1, four of DRB3, two of DRB4, four of DRB5, eight of DQA1, and 14 of DQB1. These alleles are inherited together in members of families and form closely associated groups which are found repeatedly and in characteristics patterns in different populations. We have determined the HLA class II alleles and analyzed their association in 431 healthy unrelated subjects including 161 North American Caucasians, 53 Latin Americans, 61 Blacks, 88 Chinese, and 68 Israeli Jews. For-locus haplotypes (DRB1; DRB3/4/5; DQA1; DQB1) were derived from 79 B cell lines and the analysis of segregation in 34 nuclear families. The B-cell lines yielded 37 and the families showed the same, and 20 other, haplotypic combinations. In addition to these 57 haplotypes, associated alleles were assigned in the unrelated panels following certain rules. The resulting haplotypes were assigned to groups known to share associated alleles. The groups were: (1) DR1, DR2, and DRw10 (13 haplotypes); (2) DR3 and DRw6 (26 haplotypes); (3) DR5 and DRw8 (24 haplotypes); (4) DR4, DR7, and DR9 (24 haplotypes). Their distribution in populations with different ethnic backgrounds was analyzed. The expressed DRB4 allele and its null mutant were determined by PCR and oligonucleotide hybridization. The different DR7 haplotypes resulting from these determinations were analyzed in a panel of 130 North American Caucasoids. This comprehensive analysis of class II HLA haplotypes in human populations should be useful in understanding the role of these genes and in various applications including anthropolgy, disease susceptibility, and transplantation of allogeneic organs and tissues. Address correspondence and offprint requests to: P. Stastny     

Genetic diversity of X-chromosome in populations of aboriginal Siberian ethnic groups: linkage disequilibrium structure and haplotype philogeography of ZFX locus

The structure of gene pool of the Siberian aboriginal population has been described based on the data on polymorphism of ZFX gene located on X-chromosome. In ten populations under study 49 haplotypes have been determined, three of which are presented with high frequency. Comparing the obtained results with the available data from HapMap project unique "African" haplotypes were revealed, which occurred in Yoruba population with the frequency of 3-7% and were not found in other populations. A coefficient of genetic differentiation of the Siberian ethnic groups under study amounted to 0.0486. Correlation analysis involving Mantel test did not reveal any significant correlations between a matrix of genetic distances and the matrices of geographic, linguistic and anthropological differences, where a maximum coefficient was obtained at the comparison with the anthropological matrix. Phylogenetic analysis proved strong isolation of African population from the other investigated ethnic groups. The Siberian populations were subdivided into two separate clusters: the first one included Yakuts, Buryats and Kets, while the second cluster included Altaians, Tuvinians and Khanty. A principal component analysis enabled to combine the investigated populations in three groups, which clearly differed by a degree of manifestation of Caucasoid and Mongoloid components. The first group included Europe inhabitants and one of Khanty populations, the second one--populations of South Siberia and China inhabitants. Mongoloid populations of East Siberia, the Japanese and Kets were combined in the third group. The results of barrier analysis revealed similar structure of genetic differentiation in the Siberian population. Linkage disequilibrium structure was obtained for six ethnic groups of Siberia. A unified linkage block by ten SNP of ZFX gene was found in five of the presented ethnic groups (excluding Ket population).     

Diversity of five novel Y-STR loci and their application in studies of north Chinese populations

Y-chromosomal short tandem repeats (Y-STRs) show sufficient variability among individuals in a population and high degree of geographical differentiation, so their polymorphic character makes them especially suited for population genetic studies. In this study, five novel Y-STR loci were analysed in 174 samples from five minority populations residing in north China (Daur, Kazak, Xibe, Uighur and Kirgiz) to determine the diversity of these loci in north China and to evaluate their usefulness in population study. Ninety-seven haplotypes were constructed, with 30 in Daur, 24 in Kazak, 28 in Uighur, 27 in Xibe and 16 in Kirgiz. Sixty-six (68.04%) of them were unique. The R _ST showed that there was no significant difference in Daur and Xibe (R _ST = 0.02231, P > 0.05), while among the Kazak, Uighur and Kirgiz, who reside in northwest China, there were significant differences. These results showed that these five Y-STR loci were polymorphic in the five populations. The results of AMOVA showed that majority of the differences were found within populations. By R _ST, the relationships of the five populations were accordance with the historical records: Xibe migrated to Xinjiang during the Qing Dynasty, and Kazak, Uighur and Kirgiz have different ancestors.     

Genetic variation and population structure of interleukin genes among seven ethnic populations from Karnataka,India

The extent of genetic variation and the degree of genetic differentiation among seven ethnic populations from Karnataka, India (Bunt, Havyak, Iyengar, Lingayath, Smartha, Vaishya, Vokkaliga), was investigated using four single nucleotide polymorphisms (SNPs: IL-1A 4845, IL-1B 3954, IL-1B 511 and IL-1RA 2018) of the interleukin gene cluster. Allele frequencies varied by threefold among these populations, which also differed for gene diversity and heterozygosity levels. The average degree of population subdivision among these castes was low (F _ST = 0.02). However, pair-wise interpopulation differentiation ranged from 0–7%, indicating no detectable differentiation to moderate differentiation between specific populations. The results of phylogenetic analysis based on genetic distances between populations agreed with known social and cultural data on these ethnic groups. Variation in the allele frequencies, as well as differentiation, may be attributed to differential selection and demographic factors including consanguinity among the ethnic groups. Information on the distribution of functionally relevant polymorphisms among ethnic populations may be important towards developing community medicine and public health policies.     

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups.

Trimeric and tetrameric short tandem repeats (STRs) represent a rich source of highly polymorphic markers in the human genome that may be studied with the polymerase chain reaction (PCR). We report the analysis of a multilocus genotype survey of 97-380 chromosomes in U.S. Black, White, Mexican-American, and Asian populations at five STR loci located on chromosomes 1, 4, 11, and X. The heterozygote frequencies of the loci ranged from 0.36 to 0.91 and the number of alleles from 6 to 20 for the 20 population and locus combinations. Relative allele frequencies exhibited differences between populations and unimodal, bimodal, and complex distributions. Although deviations were noted at some locus-population test combinations, genotype data from the loci were consistent overall with Hardy-Weinberg equilibrium by three tests. Population subheterogeneity within each ethnic group was not detected by two additional tests. No mutations were detected in a total of 860 meioses for two loci studied in the CEPH kindreds and five loci studied in other families. An indirect estimate of the mutation rates gave values from 2.3 x 10(-5) to 15.9 x 10(-5) for the five loci. Higher mutation rates appear to be associated with greater numbers of tandem repeats in the core motif. The most frequent genotype for all five loci combined appears to have a frequency of 7.59 x 10(-4). Together, these results suggest that trimeric and tetrameric STR loci are useful markers for the study of new mutations and genetic linkage analysis and for application to personal identification in the medical and forensic sciences.