云南澜沧拉祜族HLA-DRB1基因多态性研究

采用我们改进的高分辨率基于内含子的PCR-SBT分型方法,首次检测云南拉祜族HLA-DRB1基因多态性。在55例拉祜族个体中共检出16种HLA-DRB1等位基因,最常见的DRB1等位基因是HLA-DRB1*12021、09012、15011,基因频率分别为30.909%、15.455%、13.636%,共占拉祜族可检出等位基因的60%,其中DRB1*0413、11081、1312、1418、1504首次在我国人群中检出,并且在世界各地人群中也比较罕见。对拉祜族和世界各地人群的HLA-DRB1频率进行了比较,分析了HLA-DRB1等位基因在各人种中的分布特点,并用Neighbor-joining法进行了聚类分析。比较分析的结果显示拉祜族明显属于中国南方族群,未显示出其族源来自北方的痕迹。对此遗传数据和民族学、历史学研究的矛盾,做了初步的分析。 Abstract:The HLA-DRB1 gene polymorphism in Lahu ethnic of Yunnan,China was the first time investigated using high resolution PCR-SBT method,which is based on sequences of HLA-DRB1 Intron 1 and Intron 2 and with our improvement.From 55 individuals of Lahu ethnic 16 DRB1 alleles were detected.The three most common alleles were HLA-DRB1*12021(30.909%),09012(15.455%),15011(13.636%),and they covered 60% of the total alleles detected from Lahu ethnic.HLA-DRB1*1413,*11081,*1312,*1418,*1504 were the first time detected in the Chinese,and were very rare in worldwide ethnic groups.With comparison of HLA-DRB1 gene frequencies between various ethnic groups we analysized the characteristics of HLA-DRB1 gene distribution in worldwide populations,and constructed the phylogenetic tree by Neighbor-joining method and Nei measure of genetic distance.The result showed Lahu ethnic obviously belong to the Chinese South ethnic groups and can't trace its origin from northern groups with the HLA-DRB1 genetic data.The preliminary explanations about the contradiction were given in this paper.     

十一个少数民族红细胞酸性磷酸酶、酯酶D、6-磷酸葡萄糖酸脱氢酶及谷丙转氨酶的遗传多态性

用淀粉凝胶电泳法对我国十一个少数民族红细胞酸性磷酸酶(AcP_1)、酯酶D(EsD)、6-磷酸葡萄糖酸脱氢酶(6-PGD)及谷丙转氨酶(GPT)的遗传多态性进行了研究,共调查了2272人。研究结果表明:侗、回、白、土家、苗、彝、藏、满、瑶、哈尼和布依等民族AcP_1~B基因频率依次为0.7835、0.7958、0.8137、0.7750、0.7624、0.8038、0.8075、0.8035、0.7725、0.6488和0.6896;EsD~1基因频率依次为0.6418、0.7315、0.6005、0.6025、0.6411、0.6411、0.6558、0.6305、0.6020、0.6023和0.6368;6-PGD~A基因频率依次为0.9279、0.9381、0.9387、0.9150、0.9356、0.9014、0.7764.0.8818、0.9851.0.9233和0.9410;GPT~1基因频率依次为0.4075、0.5367、0.5049、0.4824、0.5322、0.6106、0.6313、0.6400、0.3985、0.4930和0.3976。并对发现的变异型进行了讨论。     

Glucose dehydrogenase polymorphism among ethnic groups of Singapore--with report of two additional alleles (GDH4 and GDH5).

Placental glucose dehydrogenase (GDH; E.C.1.1.1.47) polymorphism was studied in 254 Chinese, 104 Malays, and 47 Indians from Singapore using isoelectric focusing. There is suggestive evidence of two additional anodal alleles (GDH4 and GDH5) in addition to the three alleles described in earlier studies. Altogether, 14 phenotypes have been observed in the present investigation, compared with six phenotypes described in earlier studies. It appears that placental GDH is controlled by five codominant autosomal alleles producing 15 possible phenotypes. The gene frequencies of GDH1, GDH2, and GDH3 in these ethnic groups are significantly different from those reported in Caucasians. There were slight differences in the gene frequencies between the three ethnic groups, with those of Indians being nearer to the frequency in Caucasians. In general, the distribution of GDH phenotypes was at Hardy-Weinberg equilibrium in all three ethnic groups studied.     

Population genetic studies in three Chinese minorities

Three minority ethnic groups from China (Mongolians, Koreans, Zhuang) were examined with respect to the genetic markers GLO, GPT, ACP, ESD, 6-PGD, PGM₁ subtypes, C3, and TF. Significant variations were noted for the gene frequencies of GLO, GPT, ESD, sub PGM₁ between Zhuang and Mongolians; for GPT, ACP, ESD, sub PGM₁ between Zhuang and Koreans; and for GLO between Mongolians and Koreans.     

云南纳西族HLA—DRB1基因多态性研究及其族源分析

首次在国内采用本室改进的高分辨率的基于内含子的PCR－SBT分型方法,检测云南纳西族HLA－DRB1基因多态性。在60例纳西族个体中共检出37种HLA－DRB1等位基因,其显著特点是等位基因的类型检出较多,频率分布比较平均,除12021（17.50%）外其他的等位基因频率均低于8％,其他较常见的等位基因（＞5％）还有1404（7.50%）,1504（5.83%0,04051（5.83%0,08032（5.83%）,09012（5％）,03011（5％）。这几种中频等位基因共占可检出等位基因的35％,与12021一起共占52.49%,其中DRB1＊0305、0438、1123、1132、1310、0812为首次在我国人群中检出,并且在世界各地人群中也比较罕见。以纳西族和世界各地人群的HLA－DRB1频率进行了聚类分析。比较分析的结果显示纳西族明显属于中国南方族群,未显示出其族源来自北方的痕迹。根据遗传数据,并参照民族学、历史学研究,对其民族起源做了初步的分析。     

Ethnic differentiation at VNTR loci, with special reference to forensic applications.

Allele-rich VNTR loci provide valuable information for forensic inference. Interpretation of this information is complicated by measurement error, which renders discrete alleles difficult to distinguish. Two methods have been used to circumvent this difficulty--i.e., binning methods and direct evaluation of allele frequencies, the latter achieved by modeling the data as a mixture distribution. We use this modeling approach to estimate the allele frequency distributions for two loci--D17S79 and D2S44--for black, Caucasian, and Hispanic samples from the Lifecodes and FBI data bases. The data bases are differentiated by the restriction enzyme used: PstI (Lifecodes) and HaeIII (FBI). Our results show that alleles common in one ethnic group are almost always common in all ethnic groups, and likewise for rare alleles; this pattern holds for both loci. Gene diversity, or heterozygosity, measured as one minus the sum of the squared allele frequencies, is greater for D2S44 than for D17S79, in both data bases. The average gene diversity across ethnic groups when PstI (HaeIII) is used is .918 (.918) for D17S79 and is .985 (.983) for D2S44. The variance in gene diversity among ethnic groups is greater for D17S79 than for D2S44. The number of alleles, like the gene diversity, is greater for D2S44 than for D17S79. The mean numbers of alleles across ethnic groups, estimated from the PstI (HaeIII) data, are 40.25 (41.5) for D17S79 and 104 (103) for D2S44. The number of alleles is correlated with sample size. We use the estimated allele frequency distributions for each ethnic group to explore the effects of unwittingly mixing populations and thereby violating independence assumptions. We show that, even in extreme cases of mixture, the estimated genotype probabilities are good estimates of the true probabilities, contradicting recent claims. Because the binning methods currently used for forensic inference show even less differentiation among ethnic groups, we conclude that mixture has little or no impact on the use of VNTR loci for forensics.     

Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis.

Two new electrophoretic variants of glutamic-pyruvic transaminase (GPT) have been found by polyacrylamide gel electrophoresis at acidic pH. They appeared to represent a single allele, GPT 2, by the standard method of starch gel electrophoresis. Studies in families show that they are inherited as codominant alleles at the GPT locus. Population frequencies are about the same as those of other rare GPT variants. Their behavior on gels is consistent with both of them having substitutions of histidines in place of uncharged amino acids.     

中国内蒙古鄂伦春、鄂温克、达斡尔族人五种酶型和二种血清型遗传多样性分析

应用G6PD ACP ADA AK1和GC-Tf同步电泳的方法及GPT凝胶电泳的方法,分别对内蒙古境内鄂温克、鄂伦春、达斡尔族人476份血痕红细胞酶型:GPT、6-PGD、ACP、ADA、AK1和血清型GC、Tf的遗传多样性进行检测。根据所测表型频率分布、计算出基因频率分布,识别能力和累积识别能力,就其多态性特征及其在法医学鉴定中的应用价值进行了分析讨论。同国内外不同资料进行了比较研究,阐明了三群体上述酶型和血清型遗传多样性分布的规律和特点。从血型遗传学角度探讨了鄂伦春、鄂温克、达斡尔族间的族源、血缘关系。被调查人群中未发现各酶型和血清型的变异型。     

用DNA多态性分析福建,江西和浙江3省畲族的亲缘关系

为分析福建,江西和浙江３省畲族之间的关系,用聚合酶链反应（ＰＣＲ）对上述３省的３代均为畲族的无关个体的载脂蛋白Ｂ基因和Ｄ１７Ｓ３０位点的数目可变的串联重复（ＶＮＴＲ）序列进行研究。结果为：６个共有的ａｐｏＢ ＶＮＴＲ和５个共有的Ｄ１７Ｓ３０ ＶＮＴＲ等位基因在３省畲族中的分布相同,为进一步在基因水下上研究它们的亲缘关系奠定了基础。本文报道的检测ＤＮＡ多态性的方法在研究民族起源,变迁和民族识别以及各     

Population genetic studies in the Kimberley of Western Australia

More than 800 blood samples from members of 13 tribal groups in the northwest of Australia have been tested for 18 enzyme systems controlled by 21 loci and for haemoglobin. Two novel alleles, PGM2(11) and ACP1F, are each restricted to a single tribal population, suggesting relatively recent mutations. Other alleles conform very broadly with their distributions in other Australian Aboriginal populations. In particular, PGM2(3) maintains its inland distribution whilst PGDE and PEP B6 continue to be restricted to the north of the continent. Comparisons between tribes show the Baada to be distinctive, with high values of PGM1(2), GPT2, CA2(4) and ESD2 as well as having the novel allele ACP1F.     

不同群体中ATXN2基因编码区CAG重复的变异研究

在中国6个生活环境差异较大的少数民族群体中进行ATXN2基因编码区CAG重复的变异研究,以衡量其是否受到正选择的作用以及寻找推动选择作用的因素。采集6个民族群体共291个健康无关个体,对其进行STR分型,直接计数其等位基因及等位基因型频率,计算其线性Fst值,构建针对该基因的系统进化树,并对各群体进行MDS分析。线性Fst值结果显示:回族和彝族群体间ATXN2基因STR位点进化的差异具有显著性,其他4个群体相互间无显著性差异。结合已报道的其他群体进一步分析,回族、哈尼族、云南蒙古族以及内蒙古自治区蒙古族每个人群都与日本人群有显著性差异;回族、内蒙古自治区蒙古族与汉族具有显著性差异。6个群体中ATXN2基因STR的等位基因频率有各自的分布特点,稀有等位基因频率变化产生的原因可能是选择作用的结果。     

The genetics of glutamic-pyruvic transaminase in mice: Inheritance,electrophoretic phenotypes,and postnatal changes

Glutamic-pyruvic transaminase (GPT, E.C. 2.6.1.2) from 18 inbred strains of mice was subjected to starch gel electrophoresis. Two electrophoretic phenotypes were observed: a fast-migrating pattern in 16 strains and a slower-migrating pattern in two strains. A comparison of electrophoretic patterns of F₁ and backcross progeny of two strains of mice showed that the inheritance of GPT is autosomal with two codominant alleles. The genetic locus for GPT is designated Gpt-1, and its two alleles are designated Gpt-1 ^a and Gpt-1 ^b to represent the fast-migrating (A) and slow-migrating (B) patterns. The GPT was expressed in 11 tissues with different amounts of enzyme activity. Developmental studies of GPT activity in liver showed that between 5 and 12 days after birth the mean activity was 10 units/g protein. Between 12 and 19 days, a dramatic rise in activity occurred and adult values of 300 units/g protein were reached by 26 days.This research was supported by The National Foundation (CRBS-258) and the National Institutes of Health (GM15253).Preliminary results were reported at the Annual Meeting of the American Society of Human Genetics, October 11–14, 1972, in Philadelphia.R. P. D. is an investigator of the Howard Hughes Medical Institute.     

四川彝族和新疆维族HLA-B位点基因多态性分析

应用PCR-SSP(Polymerase Chain Reaction-Sequence Specific Primer) 方法对无亲缘关系的106位四川彝族样品和110位新疆维族样品进行HLA-B基因分型。在彝族样品中共检出20个等位基因,其中高频率的等位基因为B*40（0.2028）、B*15（0.1604）、B*51(0.1274),低频率的等位基因为B*47 (0.0189)、B*27(0.0142)、B*44(0.0142)、B*18(0.0094)和B*78(0.0047)。在维族样品中共检出27个等位基因,其中高频率的等位基因为B*35 (0.1136)和B*51（0.1136）,低频率的等位基因为B*41（0.0045）、B*56（0.0045）和B*78（0.0091）。经χ2检验,两个民族群体的基因型分布均符合Hardy-Weinberg平衡。经遗传分析,四川彝族群体HLA-B基因座杂合度(H)、个体识别率(DP)和非父排除率(EP)分别为0.8977、0.9661和0.8009;维族群体的H、DP和EP分别为0.9372、0.9857和0.8732。本研究获得了四川彝族和新疆维族HL A-B基因座基因频率数据,为临床器官移植配型、人类学、法医学及疾病关联性研究提供了重要的群体遗传学资料。     

Distribution of Gd- alleles in some ethnic groups of the USSR

Summary A population study of Gd^- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd^- alleles were quite different. The Gd^- frequency in Russians (Kostroma region) was 0.36%; in Ashkenazim (Gomel region), 0.91%; in Azerbaijanians (Sheki region and Apsheron region), 3.6% and 10.5%, respectively. G6PD deficiency in Russians is represented by familial forms; in Ashkenazi Jews by class II alleles Kirovograd and Zhitomir; and in Azerbaijanians, by a wide spectrum of class II and III alleles. Genetic factors involved in the formation of Gd^- allele frequencies and the spectrum in these three ethnic groups are discussed.     

Distribution of the CCR5 gene 32-basepair deletion in 11 Chinese populations

A mutant allele of the chemokine receptor gene CCR5 bearing a 32-basepair deletion (delta 32CCR5) could increase the resistance to HIV-1 infection or delayed progression to AIDS. The frequency of this mutation is higher in Europeans than in Asians. To investigate the distribution of this polymorphism in China, 715 individuals from 11 Chinese populations were screened by PCR, including the Han and 10 other ethnic groups. The delta 32CCR5 gene was found in 16 individuals from 5 ethnic groups. All of them were heterozygous. The frequency of the mutant alleles of delta 32CCR5 is low in China and reflects (or might reflect) ancestral gene flow from Europe to Chinese ethnic groups and recent intermarriage within the ethnic groups.     

白、苗、土家、彝族组特异性成分亚型的研究

用薄层聚丙烯酰胺凝胶等电聚焦结合免疫固定的方法分析了中国四个少数民族的组特异性成分(Gc)的亚型分布。白族、苗族、土家族、彝族Gc~1F的基因频率分别为0.4082,0.4229,0.3592,0.4248;Gc~1S的基因频率分别为0.3035,0.2687,0.2864,0.3301,Gc~2的基因频率分别为 0.2577,0.3035,0.3342,0.2208。另外,在四个民族中发现十六个个体带有Gc的罕见变异型等位基因。     

Genetic variation among four Mexican populations (Huichol, Purepecha, Tarahumara, and Mestizo) revealed by two VNTRs and four STRs

Allele distributions of two polymorphisms with variable number of tandem repeats (VNTR), D1S80 and APOB, and four polymorphisms with short tandem repeats (STR), VWA, TH01, CSF1PO, and HPRTB, were analyzed in three Mexican ethnic groups: Huichol, Purepecha, and Tarahumara. Genotype distribution was in agreement with Hardy-Weinberg expectations for each locus and ethnic group. Heterozygosity (H), power of discrimination, and probability of exclusion were estimated. The three groups presented some distinctive genetic features: (1) a diminished genetic diversity (H = 66.8% to 73.4%) and mean number of alleles by locus (5.8 to 6.3) in comparison with Mexican mestizos (H = 78.3%, 10.5 alleles/locus), and (2) uneven allele distributions as evidenced by "distinctive alleles" with high frequencies, especially in the Tarahumara and the Huichol. Genetic relatedness analysis included data from a previously typed mestizo population, the largest and most widely distributed population in Mexico. Allele distribution differentiation was observed among all four groups, except between mestizo and Purepecha (p > 0.05), which was interpreted as indicating a larger Spanish component in the Purepecha as a result of gene flow effects. Although intrapopulation inbreeding (FIS) was not significant, heterozygote deficiency in the total population (FIT) and divergence among populations (FST) were significant (p < 0.05). Genetic distances displayed a closer relationship among mestizos, Purepechas, and Huichols in relation to Tarahumaras. Correlation between the observed genetic features and the geographic isolation level points to genetic drift as the main cause of differentiation among these Mexican populations.     

Ethnicity and human genetic linkage maps

Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by genomic features, such as GC content and repeat density. We have examined--for the first time, to our knowledge--racial/ethnic differences in genetic maps of humans. We constructed genetic maps based on 353 microsatellite markers in four racial/ethnic groups: whites, African Americans, Mexican Americans, and East Asians (Chinese and Japanese). These maps were generated using 9,291 subjects from 2,900 nuclear families who participated in the National Heart, Lung, and Blood Institute-funded Family Blood Pressure Program, the largest sample used for map construction to date. Although the maps for the different groups are generally similar, we did find regional and genomewide differences across ethnic groups, including a longer genomewide map for African Americans than for other populations. Some of this variation was explained by genotyping artifacts--namely, null alleles (i.e., alleles with null phenotypes) at a number of loci--and by ethnic differences in null-allele frequencies. In particular, null alleles appear to be the likely explanation for the excess map length in African Americans. We also found that nonrandom missing data biases map results. However, we found regions on chromosome 8p and telomeric segments with significant ethnic differences and a suggestive interval on chromosome 12q that were not due to genotype artifacts. The difference on chromosome 8p is likely due to a polymorphic inversion in the region. The results of our investigation have implications for inferences of possible genetic influences on human recombination as well as for future linkage studies, especially those involving populations of nonwhite ethnicity.     

Polymorphism A/G in position +49 of CTLA4 exon 1 in multiple sclerosis in Russians

The association of multiple sclerosis (MS) with alleles A and G of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a candidate gene for autoimmune disorders, was studied. The allele polymorphism results from single nucleotide substitution (A/G) in position +49 of exon 1 and leads to substitution Thr-->Ala in the leader peptide. The case-control study involved two groups of ethnic Russians: 168 MS patients and 209 healthy subjects from central Russia. Genotype frequencies were in agreement with the Hardy-Weinberg equilibrium in both groups (P > 0.05). The controls significantly differed in CTLA4 allele and genotype frequencies from Mongoloids but not from other Caucasians. No association was observed between MS and CTLA4. In addition, the combined association with MS was analyzed for both the CTLA4 alleles and allele groups of HLA DRB1. The results showed that the CTLA4 dimorphism does not affect susceptibility to MS in ethnic Russians, be these stratified or not with regard to DRB1 alleles corresponding to serologic specificities DR1 to DR16.