内蒙古赤峰地区蒙古族人群30个常染色体InDel的遗传多态性

为了调查30个常染色体插入/缺失(insertion/deletion, InDel)位点在内蒙古赤峰地区蒙古族人群中的遗传多态性,应用Investigator DIPplex试剂盒对50名内蒙古赤峰地区蒙古族无关健康个体进行分型检测,统计分析InDel位点的频率分布及群体遗传学参数。经Bonferroni校正后, 30个InDel位点均符合Hardy-Weinberg平衡检验(P0.05/30),各位点间处于连锁平衡状态(P0.05/435);个体识别率为0.309 6～0.658 4,多态信息含量为0.188 9～0.374 9;系统累积个体识别率为0.999 999 999 993,三联体累积非父排除率为0.996 257 187 748,二联体累积非父排除率为0.957 489 048 877。结果提示, Investigator DIPplex试剂盒包含的30个常染色体InDel位点在内蒙古赤峰地区蒙古族人群中有较好的遗传多态性,可作为法医遗传学实践应用的补充。     

内蒙古蒙古族人群DYS413基因座的多态性分布

为调查DYS413(YCA Ⅲ)基因座在内蒙古蒙古族人群中的分布情况,为其应用于法医学和人类遗传学研究提供依据,采集了120例内蒙古蒙古族男性无关个体静脉血,EDTA抗凝,用酚-氯仿法抽提DNA,PCR扩增DYS413基因座,6％非变性聚丙烯酰胺凝胶电泳,1‰硝酸银(AgNO_3)染色分型。在120例内蒙古蒙古族男性人群中共检出30个不同的单倍型,其频率介于0.0007至0.01361之间,其HD(单倍型多样性)值为0.94054。表明DYS413基因座在内蒙古蒙古族人群中分布好,对法医学和人类遗传学研究具有重要价值。     

陕西渭南地区汉族人群17个Y-STR基因座多态性及遗传关系分析

调查陕西渭南地区汉族群体17个Y-STR基因座的多态性,探讨其群体遗传学及法医学应用价值。应用Y-fi ler荧光标记复合扩增系统,对413名陕西渭南地区汉族无关男性个体17个Y-STR基因座进行复合扩增,用ABI3130遗传分析仪进行基因分型,计算各基因座的群体遗传学参数,并结合已经发表的其他10个群体相应基因座的单倍型资料,分析各群体间的遗传距离。413名陕西渭南汉族个体共检出405种单倍型,其中397种单倍型仅出现1次,单倍型多样性达0.9999,基因多样性(GD)为0.4130(DYS391)~0.9734(DYS385a/b),累计GD值为0.9999。遗传距离分析提示,陕西渭南汉族与辽宁满族的遗传距离最小(0.00110),与青海藏族的遗传距离最大(0.22333)。结果表明,17个Y-STR基因座在陕西渭南汉族群体中具有丰富的遗传多态性和较高的非父排除能力,在法医学和人类群体遗传学研究中具有重要价值。     

贵州三都水族Y染色体上7个STR基因座的遗传多态性分析

采用多重PCR技术, 结合ABI PRISMTM 377 DNA Sequencer四色荧光标记进行基因扫描分型, 对中国贵州三都水族群体进行7个Y-STR基因座的多态性分析, 计算其基因频率、遗传多样性及单倍型多样性, 获取相应的遗传多态信息.结果显示: 在94个无关男性样本中, DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393等基因座分别检出6, 4, 6, 2, 3, 5, 4种等位基因, 遗传多样性在0.124(DYS389Ⅰ)～0.630(DYS19)之间; 由此组成的单倍型为27种, 单倍型多样性0.868.此7个Y-STR基因座在贵州三都水族群体中具有较好的多态性, 单倍型具有较高的遗传多态.     

贵州三都水族Y染色体上七个STR基因座的遗传多态性分析

采用多重PCR技术, 结合ABI PRISMTM 377 DNA Sequencer四色荧光标记进行基因扫描分型, 对中国贵州三都水族群体进行7个Y-STR基因座的多态性分析, 计算其基因频率、遗传多样性及单倍型多样性, 获取相应的遗传多态信息。结果显示: 在94个无关男性样本中, DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393等基因座分别检出6, 4, 6, 2, 3, 5, 4种等位基因, 遗传多样性在0.124(DYS389Ⅰ)~0.630(DYS19)之间; 由此组成的单倍型为27种, 单倍型多样性0.868。此7个Y-STR基因座在贵州三都水族群体中具有较好的多态性, 单倍型具有较高的遗传多态。     

DYS458、DYS534、DYS426和DYS626基因座多态性研究

目的：研究河南汉族群体DYS458、DYS534、DYS426和DYS626四个Y-STR基因座遗传多态性,评估其法医学应用价值。方法：采用PCR扩增和非变性聚丙烯酰胺凝胶电泳及DNA测序分析河南汉族113名无血缘关系、健康男性个体的4个Y-STR基因座基因及单倍型频率分布。结果：4个基因座共发现了24个等位基因,频率分布在0.0177～0.9027,基因多样性（gene diversity,GD）值最低为0.1801（DYS426）,最高为0.8368（DYS626）。113个个体共检测到94个单倍型,其79种为惟一的,单倍型多样性为0.99589。结论：4个Y-STR基因座在河南汉族群体均具有较高的遗传多态性,可应用于法医学个体识别和亲子鉴定。     

HLA－DRB1基因位点多态性的PCR－RFLP分析

设计并建立一套适合国内应用的改良ＰＣＲ－ＲＦＬＲ方法,分５组特异性扩增ＤＮＡ样品,随后进行酶切定型分析,准确检测了编码ＤＲ抗原特异性的ＨＬＡ－ＤＲＢ１基因位点的多态性,该法采用分组扩增,不发生与其它ＤＲＢ位点等位基因的交叉扩增,不仅适合纯合子的区分而且可以清楚准确地检测杂合子样品,已报道过的ＤＲＢ１位点编码的特异性组合都可以通过这个方法得到准确分析。所使用的Ⅱ类限制性内切酶均价格便宜、易购。     

辽宁满族11个Y-STR基因座多态性及遗传关系的分析

调查了辽宁满族群体11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Powerplex Y System荧光标记复合扩增系统检测203名满族无关男性个体的11个Y-STR基因座, 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其他16个群体相应基因座的遗传学资料, 分析其遗传距离和聚类关系。满族个体中共检出189种单倍型, 单倍型频率多样性0.9991, 基因多样性GD值在0.4594(DYS391)～0.9258(DYS385a/b); 从遗传距离分析发现, 满族和东北汉族的遗传距离最小(0.0015), 与维吾尔族的遗传距离最大(0.1485)。结果表明, 11个Y-STR基因座在满族群体中具有较好的遗传多态性, 适用于当地区的法医学应用。与其他民族群体遗传多样性的研究, 对了解满族的起源、迁移以及相互关系有重要意义。     

云南纳西族10个X-STR基因座遗传多态性研究

为研究云南纳西族人群10个位于X染色体的短串联重复序列基因座及单倍型的遗传多态性, 采用PCR扩增, 变性聚丙烯酰胺凝胶电泳结合银染显色分型技术, 对98名云南纳西族无关男性个体X染色体的10个STR基因座进行基因分型。结果显示, 98名无关男性个体中, DXS7423、DXS7424、DXS6799、DXS7133、DXS6804、DXS8378、HPRTB、DXS7130、DXS7132 和DXS6789分别检出4、7、6、3、6、5、5、7、6和8个等位基因, 等位基因频率分布在0.0102(DXS7132、DXS6789)~0.7347(DXS7133)之间。由DXS8378与DXS7130基因座组成的单倍型共检出20种, 由DXS6789、DXS6799和DXS7424基因座组成的单倍型共检出56种, 单倍型多样性分别为0.8553和0.9649, 说明所选的10个X-STR位点有较高的多态性信息, 在基因组多样性研究、法医学个体识别、亲权鉴定中具有重要应用价值。     

中国汉族个体HLA-A、-B基因全长序列的测定及调控区多态性

文章利用20个中国汉族个体样本建立了稳定精确的HLA-A、-B基因全长序列的克隆测序方法, 获得HLA-A 10个等位基因4.2 kb序列, HLA-B 6个等位基因3.7 kb序列, 序列涵盖了两个基因的所有外显子、所有内含子、5′启动子区以及3′非翻译区(3′UTR)。A*1153是文章发现的一个新等位基因, B*151101的内含子序列、5个HLA-A以及2个HLA-B等位基因的5′启动子序列和3′UTR序列为国际上首次报道, 其他等位基因均延伸了IMGT/HLA数据库中释放的全长序列。文章首次在中国汉族个体中测定了IMGT/HLA数据库中没有覆盖的HLA-A、-B基因的上游5′启动子以及下游3′UTR区域的多态性模式。HLA-A基因5′启动子延伸区域共发现26个SNPs和一处3 bp(AAA/-)的插入/缺失, 3′UTR延伸区域共发现14个SNPs; HLA-B基因5′启动子延伸区域共发现5个SNPs和一处1 bp(T/-)的插入/缺失, 3′UTR延伸区域共发现8个SNPs。通过对两个基因的5′启动子、外显子以及3′UTR的系统发育树分析, 发现两个基因调控区与外显子的进化关系有所不同, HLA-A基因除A*24020101外, 其他等位基因两端调控区与外显子连锁比较紧密, HLA-B基因两端调控区与外显子之间则发生了较为频繁的重组事件。     

Relationship of HLA-A,-Cw polymorphisms with HIV/AIDS in Chinese Yi ethnic group of Sichuan province

The relationship of HLA-A,-Cw alleles on HIV infection and AIDS disease progression in the Chinese Yi ethnic group of Sichuan province were investigated. The genetic polymorphisms of HLA-A,-Cw alleles of 102 unrelated healthy Chinese Yi ethnic individuals, 68 HIV-1 infected and 21 HIV positive long-time survivors were typed by PCR-SSP assay. Statistic significance was determined by the x ² test with the SPSS software. No significant differences were observed between the HLA-A,-Cw alleles of the 68 HIV-1 infected and 102 non-infected Chinese Yi control individuals. Whereas the prevalence of A*3601,Cw*14(01-03)and Cw*0304 was significantly higher in 21 long time survivors compared with 102 healthy controls with P values of 0.016, 0.016 and 0.000 by x ² or the Fisher exact test respectively. The result implies that A*3601,Cw*14(01-03) and Cw*0304 may be associated with slow AIDS disease progression in the Chinese Yi ethnic group, further studies on this association may yield insight on the pathogenesis of HIV-1 infection. Foundation items: the 10^th Five-Years Key Technologies R&D Program (2004BA719A01) and 973 Program (2006 CB 504207)     

Correlation Between HLA-A,B and DRB1 Alleles and Severe Fever with Thrombocytopenia Syndrome

ObjectiveSevere fever with thrombocytopenia syndrome (SFTS) is an emerging hemorrhagic fever caused by a tick-borne bunyavirus (SFTSV) in East Asian countries. The role of human leukocyte antigen (HLA) in resistance and susceptibility to SFTSV is not known. We investigated the correlation of HLA locus A, B and DRB1 alleles with the occurrence of SFTS.MethodsA total of 84 confirmed SFTS patients (patient group) and 501 unrelated non-SFTS patients (healthy individuals as control group) from Shandong Province were genotyped by PCR-sequence specific oligonucleotide probe (PCR-SSOP) for HLA-A, B and DRB1 loci.Allele frequency was calculated and compared using χ² test or the Fisher''s exact test. A corrected P value was calculated with a bonferronis correction. Odds Ratio (OR) and 95% confidence intervals (CI) were calculated by Woolf’s method.ResultsA total of 11 HLA-A, 23 HLA-B and 12 HLA-DRB1 alleles were identified in the patient group, whereas 15 HLA-A, 30 HLA-B and 13 HLA-DRB1 alleles were detected in the control group. The frequencies of A*30 and B*13 in the SFTS patient group were lower than that in the control group (P = 0.0341 and 0.0085, Pc = 0.5115 and 0.252). The ORs of A*30 and B*13 in the SFTS patient group were 0.54 and 0.49, respectively. The frequency of two-locus haplotype A*30-B*13 was lower in the patient group than in the control group(5.59% versus 12.27%, P = 0.037,OR = 0.41, 95%CI = 0.18–0.96) without significance(Pc>0.05). A*30-B*13-DRB1*07 and A*02-B*15-DRB1*04 had strong associations with SFTS resistance and susceptibility respectively (Pc = 0.0412 and 0.0001,OR = 0.43 and 5.07).ConclusionThe host HLA class I polymorphism might play an important role with the occurrence of SFTS. Negative associations were observed with HLA-A*30, HLA-B*13 and Haplotype A*30-B*13, although the associations were not statistically significant. A*30-B*13-DRB1*07 had negative correlation with the occurrence of SFTS; in contrast, haplotype A*02-B*15-DRB1*04 was positively correlated with SFTS.     

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.     

A human-specific allelic group of the MHC DRB1 gene in primates

Background

Diversity among human leukocyte antigen (HLA) molecules has been maintained by host-pathogen coevolution over a long period of time. Reflecting this diversity, the HLA loci are the most polymorphic in the human genome. One characteristic of HLA diversity is long-term persistence of allelic lineages, which causes trans-species polymorphisms to be shared among closely related species. Modern humans have disseminated across the world after their exodus from Africa, while chimpanzees have remained in Africa since the speciation event between humans and chimpanzees. It is thought that modern humans have recently acquired resistance to novel pathogens outside Africa. In the present study, we investigated HLA alleles that could contribute to this local adaptation in humans and also studied the contribution of natural selection to human evolution by using molecular data.

Results

Phylogenetic analysis of HLA-DRB1 genes identified two major groups, HLA Groups A and B. Group A formed a monophyletic clade distinct from DRB1 alleles in other Catarrhini, suggesting that Group A is a human-specific allelic group. Our estimates of divergence time suggested that seven HLA-DRB1 Group A allelic lineages in humans have been maintained since before the speciation event between humans and chimpanzees, while chimpanzees possess only one DRB1 allelic lineage (Patr-DRB1*03), which is a sister group to Group A. Experimental data showed that some Group A alleles bound to peptides derived from human-specific pathogens. Of the Group A alleles, three exist at high frequencies in several local populations outside Africa.

Conclusions

HLA Group A alleles are likely to have been retained in human lineages for a long period of time and have not expanded since the divergence of humans and chimpanzees. On the other hand, most orthologs of HLA Group A alleles may have been lost in the chimpanzee due to differences in selective pressures. The presence of alleles with high frequency outside of Africa suggests these HLA molecules result from the local adaptations of humans. Our study helps elucidate the mechanism by which the human adaptive immune system has coevolved with pathogens over a long period of time.     

内蒙古胡列也吐的鹤类及保护

胡列也吐位于内蒙古自治区呼伦贝尔盟陈巴尔虎旗境内 ,地理位置在东经 4 9°4 8′,北纬 1 1 8°2 7′ ,总面积为 4 0km2 。 1 998年笔者对本区的鹤类资源进行了为期一年的调查。本区共有 5种鹤栖息 ,本次共记录到 4种鹤计 78只。其中白头鹤 52只 ,丹顶鹤 1 1只 ,白枕鹤 4只 ,蓑羽鹤 1 1只。灰鹤在本区有分布 ,但本次调查未见。此外还记录到我国最大的白头鹤夏季集群。     

Association of ADAM33 gene polymorphisms with asthma in Mongolian and Han groups in Inner Mongolia

Polymorphisms in the gene encoding for A disintegrin and metalloprotease 33 (ADAM33) are closely associated with the risk of bronchial asthma attacks in different populations. We collected blood samples from 248 asthma patients – 130 of the Han ethnic group and 118 of the Mongolian ethnic group – living in the Inner Mongolia region of China, and analyzed the single nuclear polymorphisms (SNPs) of the T1, T2 and V4 loci of the ADAM33 gene using PCR-RFLP (restriction fragment length polymorphism). In addition, we also tested 256 healthy controls (134 and 122 from the Han and Mongolian ethnic groups respectively) for the same SNPs. Three genotypes of the T1, T2 and V4 loci were predominantly detected: while polymorphisms in the T1 locus were significantly associated with asthma risk in both Mongolian and Han ethnicities (P?<?0.05, 1P?<?0.05), that in the V4 locus were relevant only in the Mongolian patients (P?<?0.05, 1P?>?0.05). In contrast, polymorphisms in the T2 locus showed no significant association with asthma risk in either ethnic group (P?>?0.05, 1P?>?0.05).     

内蒙古西部地区蒙古族、汉族4项人类群体遗传学特征的研究

从1998~2001年调查了内蒙古自治区鄂尔多斯市、锡林郭勒盟、巴彦淖尔盟的蒙古族、汉族6个群体的拇指类型、环食指长、指甲类型、足趾长等4项人类群体遗传学指标,共获有效资料2760例。研究表明：（1）6个群体的直型拇指出现率均在60％以上,且均无性别间明显差异;（2）6个群体环指长率均远高于食指长率,有4个群体存在性别间显著差异;（3）各群体均表现出长型指甲最多、方型次之、扁型最少;（4）6个群体均多为拇趾长型,且各群体均无性别间显著差异;（5）4项指标之间无明显相关关系。 Abstract:From 1998 to 2001,a sample of 2760 Mongol and Han individuals was investigated in 3 areas (Eerduosi city,Xilinguole and Bayannaoer leagues) from Inner Mongolia.Each individual was studied on 4 genetic characters (thumb type,palmar digital formular,fingernail type and plantar digital formular).The result is as follows:(1) The frequencies of the straight thumb were over 60%,and there were no significant sexual differences in all of 6 groups.(2) The frequencies of the ring-finger-longer were much higher in 6 groups,and there were significant sexual differences in 4 groups.(3) The frequencies of the long-shaped fingernail were the highest in all groups,the squat-shaped were the lowest.(4) The big toes were longer than the second toes in most people of 6 groups,but without significant sexual differences in each groups.(5) There were no significant correlations between 4 characters.     

HLA-A,B, C gene and haplotype frequencies in Vienna

Summary The HLA-A, B, C haplotype frequencies determined through family investigations in 500 unrelated individuals of the Viennese population were calculated, as well as the gene frequencies of 37 HLA determinants and the linkage disequilibria between the three HLA SD loci (HLA-A, HLA-B, and HLA-C). The existence of HLA-A, B, C superhaplotypes could be confirmed.National Blood Group Reference Laboratory (WHO) and National Tissue Typing Reference Laboratory (Council of Europe)     

Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group

Background

Previous studies indicate that the frequency distributions of HLA alleles and haplotypes vary from one ethnic group to another or between the members of the same ethnic group living in different geographic areas. It is necessary and meaningful to study the high-resolution allelic and haplotypic distributions of HLA loci in different groups.

Methodology/Principal Findings

High-resolution HLA typing for the Uyghur ethnic minority group using polymerase chain reaction-sequence-based-typing method was first reported. HLA-A, -B and -DRB1 allelic distributions were determined in 104 unrelated healthy Uyghur individuals and haplotypic frequencies and linkage disequilibrium parameters for HLA loci were estimated using the maximum-likelihood method. A total of 35 HLA-A, 51 HLA-B and 33 HLA-DRB1 alleles were identified at the four-digit level in the population. High frequency alleles were HLA-A*1101 (13.46%), A*0201 (12.50%), A*0301 (10.10%); HLA-B*5101(8.17%), B*3501(6.73%), B*5001 (6.25%); HLA-DRB1*0701 (16.35%), DRB1*1501 (8.65%) and DRB1*0301 (7.69%). The two-locus haplotypes at the highest frequency were HLA-A*3001-B*1302 (2.88%), A*2402-B*5101 (2.86%); HLA-B*5001-DRB1*0701 (4.14%) and B*0702-DRB1*1501 (3.37%). The three-locus haplotype at the highest frequency was HLA-A*3001-B*1302-DRB1*0701(2.40%). Significantly high linkage disequilibrium was observed in six two-locus haplotypes, with their corresponding relative linkage disequilibrium parameters equal to 1. Neighbor-joining phylogenetic tree between the Uyghur group and other previously reported populations was constructed on the basis of standard genetic distances among the populations calculated using the four-digit sequence-level allelic frequencies at HLA-A, HLA-B and HLA-DRB1 loci. The phylogenetic analyses reveal that the Uyghur group belongs to the northwestern Chinese populations and is most closely related to the Xibe group, and then to Kirgiz, Hui, Mongolian and Northern Han.

Conclusions/Significance

The present findings could be useful to elucidate the genetic background of the population and to provide valuable data for HLA matching in clinical bone marrow transplantation, HLA-linked disease-association studies, population genetics, human identification and paternity tests in forensic sciences.     

Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group

HLA haplotype analysis has important application value in human population genetics, anthropological research and HLA matching transplantation. Based on HLA-A, -B, -C, -DRB1 and -DQB1 genotyping data from 663 families including 663 leukemia patients and 991 related donors, the allele frequency (AF) and haplotype frequency (HF) of two-, three- and five-locus haplotype distribution patterns in the Chinese Han population were determined by family segregation. A total of 38 alleles at A locus, 75 alleles at B locus, 35 alleles at C locus, 53 alleles at DRB1 locus and 22 alleles at DQB1 locus were discovered in this population. The frequencies of these alleles were basically consistent with those of previous reports except for some tiny differences. The study found 11 A-C, 15 C-B, 4 B-DRB1 and 11 DRB1-DQB1 two-locus haplotypes with a frequency over 2%. The number of A-C-B and A-B-DRB1 three-locus haplotype with a frequency over 1% were 11 and 3 respectively. The most common HLA-A-C-B-DRB1-DQB1 haplotype (HF>1%) were A*3001-C*0602-B*1302-DR*0701-DQ*0202 (4.30%), A*0207-C*0102-B*4601-DR*0901-DQ*0303 (3.07%), A*3303-C*0302-B*5801-DR*0301-DQ*0201 (1.49%) and A*1101-C*0102-B*4601-DR*0901-DQ*0303 (1.01%). The results are helpful for finding matching donors for hematopoietic stem cell transplant patients and also contribute to transplant immunology, HLA-related diseases, research of human genetics and other fields.