中国东乡族9个STR基因座遗传多态性研究

选择9个STR基因座,采用四色荧光标记STR基因扫描技术,对中国甘肃省特有民族——东乡族的群体遗传多态性进行研究。同时检测94个无关个体血液样本,共检出72种等位基因,基因频率的分布在0.0053~0.5825之间;检出182种基因型,基因型频率分布在0.0106~0.2660之间;9个STR位点基因型分布均符合Hardy-Weinberg平衡定律（P＞0.05）。9个STR位点多态信息量（polymorphism information content,PIC）均大于0.6378,杂合度(heterozygosity,H) 均大于0.6500,个体识别力(discrimination power,DP)均大于0.8216,非父排除率(probabilities of paternity exclusion,PPE) 均大于 0.4903。种族比较结果显示,甘肃东乡族与白种人及黑种人在绝大多数位点存在显著差异（P＜0.05）,而9个STR位点与汉族群体的遗传差异均不显著（P＞0.05）。研究结果丰富了中华民族基因数据库,在人类群体遗传学及法医学研究领域有重要应用价值。 Abstract:Genetic distribution for nine STR loci was determined in a Chinese Dongxing ethnic group based on STR genescan marked by fluorescence.Seventy-Two alleles and 182 genotypes were observed in 94 unrelated Chinese Dongxiang individuals,with the corresponding gene frequency and genotype frequency being 0.0053~0.5825 and 0.0106~0.2660 respectively.The genotypes of nine STR loci were in accordance with the Hardy-Weinberg equilibrium (P＞0.05).The statistical analysis of nine STR loci showed PIC( polymorphism information content,PIC)≥0.6378,H(heterozygosity,H) ≥0.6500,DP (discrimination power,DP) ≥0.8216,PPE(probabilities of paternity exculation,PPE) ≥0.4903.The result indicated that there was a significant difference between Dongxiang ethnic group and the white and the black.There was no significant difference in Han nationality.These result filled the Dongxiang ethnic group-a specific group of Chinese into the genetic database and played an important role in Chinese population genetic study and forensic medicine application.     

9号染色体短臂上7个STR基因座在基因扫描中的信息表现

为了初步探讨7个位于染色体9p区域的短串联重复序列(shorttandemrepeat,STR)基因座:D9S288、D9S157、D9S1748、D9S171、D9S161、D9S1817和D9S1805在遗传学研究及法医学应用中的意义,随机抽取225名湖南汉族无关个体,复合PCR技术扩增上述基因座,ABI377全自动测序仪进行基因分型,共检出75种等位基因,通过对基因型及等位片断频率分布的研究和数据统计分析,7个基因座基因频率分布在0.002～0.800之间,构成243种基因型。7个STR基因座基因型分布均符合Hardy Weinberg平衡定律(P>0.05),杂合度(heterozygosity,H)介于0 347～0.844之间,个体识别力(discriminationpower,DP)为0.346～0.841,非父排除率(probabilitiesofpaternityexclusion,PPE)为0.308～0.738,多态信息含量(polymorphicinformationcontent,PIC)在0.328～0.822之间。种族比较结果显示,湖南汉族与非洲黑人及欧洲白人在大多数基因座均存在显著差异(P<0.001)。研究结果丰富了中华民族基因数据库,在人类群体遗传学及法医学研究领域有重要应用价值。     

云南怒族STR基因座遗传多态性研究

本文选择9个STR基因座和Amelogenin基因座,利用基因测序,采用基因扫描技术,对云南怒族聚集地区84名无关个体血样进行研究,建立了云南怒族9个STR基因座的基因频率数据库。用χ2检验,9个STR基因座基因型分布符合Hardy-Weinberg平衡定律。与其他民族资料一样,本课题所获得的云南怒族9个STR基因座数据是一组有价值的DNA多态性遗传标记资料。为建立我国不同民族STR基因数据库提供了资料。 Abstract:In this study,blood samples were randomly drawn from 84 unrelated Nu individuals.The polymorphism of nine STR loci and Amelogenin locus were determined by DNA GeneScan.The genetic database on the distribution of gene frequency on the nine STR loci was established,statistical results showed that the genotype distributions were in agreement with Hardy-Weinberg equation.Compared with other population,the results in our study were of great value in human DNA genetic data instant method with the characteristics of precision and sensitivity.     

奶牛和肉牛6个STR基因座遗传多态性研究The Polymorphism Distributions of Six STR Loci in Dairy Cattle and Beef Cattle

利用PCR技术和复合电泳银染技术检测奶牛和肉牛BM2113、BM1862、BMc701、BM2934、TGLA122、BM720等6个STR基因座的多态性分布，并计算该6个基因座的基因频率（Pi）、个体鉴别力（DP）、杂合度（H）、多态信息含量（PIC）、和非父排除概率（PE）。结果显示：6个STR基因座的基因型分布符合Hardy-Weinberg平衡，奶牛中6个STR基因座中BM2113 基因座的DP、H和PIC最高，TGLA122基因座的PE最高。 6个STR基因座的累积个体鉴别力 （CDP）为 0.99997 ，累积非父排除能力（CPE）为 0.98827 。肉牛中6个STR基因座中BM1862 基因座的DP、H、PIC、PE都是最高，6个STR基因座的累积个体鉴别力（CDP）为 0.99999，累积非父排除能力（CPE）为 0.99578 。结果表明，6个STR基因座可用于牛的遗传连锁分析、个体识别和亲子鉴定等研究领域。Abstract：The polymorphism distributions of six STR loci，BM2113，BM1862，BMc701，BM2934，TGLA122，and BM720 were detected in cattle by Polymerase Chain Reaction and multiplex gel electrophoresis followed by silver staining. Gene frequency (Pi)，power of discrimination (DP), heterozygosity (H), polymorphism information content (PIC) and probability of paternity exclusion (PE) were calculated．All loci obey Hardy-Weinberg equilibrium. DP, H and PIC of BM2113 locus, and PE of TGLA122 locus are the biggest among six STR loci in Holstein Friesian. Cumulate DP of six STR loci is 0.99997, Cumulate PE of six STR loci is 0.98827. DP, H, PIC and PE of BM1862 loci are the biggest among six STR loci in beef. Cumulate DP of six STR loci is 0.99999, Cumulate PE of six STR loci is 0.99578. These results showed that the six STR loci could be used as linkage analysis, individual identification and paternity test in cattle.     

血清单胺氧化酶遗传特性的初步研究

通过采用卵性鉴定准确性在98%以上的双生子法对22对单卵双生子及16对双卵双生子进行血清 MAO活性的遗传研究，结果发现单卵双生子对的血清MAO活性相关系数达。.67，而双卵双生子对 的血清MAO活性相关系数仅0.18,说明遗传因素对血清MAO活性的大小起有一定作用。用三种方法 计算其遗传度为60-98%ao     

中国朝鲜族9个STR基因座遗传多态性研究

为丰富中华民族基因数据库,获取中国吉林省特有少数民族--朝鲜族D3S1358、vWA、FGA、TH01、TPOX、CSF1PO、D5S818、D13S317、D7S820等9个STR基因座的群体遗传数据。采用四色荧光标记STR基因扫描技术,检测91个无关个体血液样本。结果共检出81种等位基因,其基因频率分布在0.0055~0.4615之间;共检出196种基因型,其基因型频率分布在0.0110~0.9890之间。9个STR基因座基因型频率观察值与期望值均符合Hardy-Weinberg平衡定律（P＞0.05）。9个基因座的多态信息量PIC（polymorphic information content）分布于0.6863~0.8807之间,杂合度H（heterozygosity）分布于0.6919~0.8809之间,个体识别力DP（discrimination power）分布于0.8301~0.9670之间,非父排除率PPE（probability of paternity exclusion）分布于0.8590~0.9942之间。研究结果可应用于人类群体遗传学及法医学研究等领域。 Genetic Polymorphism of 9 STR loci in Chaoxian National Minority of China GAO Ya1,JIN Tian-bo1,LAI Jiang-hua1,CHEN Teng1,ZHENG Hai-bo1,ZHU Bo-feng1,HU Song-nian2,WANG Jian2,LI Sheng-bin1 1.Forensic Laboratory of Ministry of Health of Xi'an Jiaotong University,710061,Xi'an China; 2.Beijing Huada Genomics Institute( Beijing Airport Industrial Zone B-6),101300,Beijing,China Abstract:In order to enrich the Chinese genetic database,nine polymorphic loci of STR,such as D3S1358,vWA,FGA,TH01,TPOX,CSF1PO,D5S818,D13S317 and D7S820 were studied.Based on STR gene scan marked by fluorescence,91 unrelated Chinese Chaoxian individuals were observed.81 alleles and 196 genotypes were found.The corresponding gene frequency and genotype frequency were 0.0055~0.4615 and 0.0110~0.9890 respectively.The genogypes frequency of nine STR loci was good with the Hardy-Weinberg equilibrium（P＞0.05）.The statistical analysis of nine STR loci showed the following：PIC（polymorphic information content）≥0.6863,H（heterozygosity）≥0.6919,DP（discrimination power）≥0.8301,EPP（probability of paternity exclusion）≥0.8590.The data studied can be used in Chinese population genetic studies and forensic medicine applications. Key words：Chaoxian groups of China;STRs;gene scan;genetic polymorphism     

用多重PCR检测上海地区汉族人群9个STR基因座的多态性

利用多重PCR和四色荧光（5-FAM,JOE,NED和ROX）自动化检测技术调查上海地区汉族人群D3S1358、vWA、FGA、D8S1179、 D21S11、 D18S51、D5S818、D13S317、D7S820等9个STR基因座多态性分布并计算该9个基因座的基因频率（Pi）、个体鉴别力（DP）、无偏倚期望杂合性（H）、多态性信息含量（PIC）和非父排除概率（PE）。结果显示：9个STR基因座的基因型分布符合Hardy-Weinberg平衡,9个STR基因座中FGA基因座的DP值最高为0.9584,D8S1179的H值最高为0.9403,D18S51的PIC值最高为0.8560,D18S51的PE值最高为0.7391,9个STR基因座累积个体鉴别力(CDP)为0.9999996,累积非父排除能力(CPE)为0.99991。9个STR基因座适合作为中国人群的遗传标志,用于人类学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。 Abstract:By multiplex amplification and four fluorescent technique,the polymorphism distributions of nine STR loci,D3S1358,vWA,FGA,D8S1179,D21S11,D18S51,D5S818,D13S317 and D7S820 were investigated in Shanghai Han population.Gene frequency (Pi),power of discrimination (DP),polymorphism information content (PIC) expected heterozygosity (H) and probability of paternity exclusion (PE) were calculated.All loci meet Hardy-Weinberg equilibrium.DP of FGA locus,H of D8S1179 locus,PIC of D18S51 locus and PE of D18S51 locus are the biggest among nine STR loci.Cumulate DP (CDP) of nine STR loci is 0.9999996,Cumulate PE (CPE) of nine STR loci is 0.99991.Nine STR loci could be used as the genetic markers of Chinese population in the studies of anthropology,linkage analysis of genetic disease genes,individual identification and paternity test in forensic medicine.     

河南汉族群体6个STR基因座遗传多态性研究

对河南省河南籍汉族群体的6个短串联重复序列（Short tandem repeats,STR)基因座等位基因频率进行研究,得到河南汉族群体F13A1,F13B,D8S1179,CSF1PO,D5S818,TPOX基因座的群体遗传学依据。EDTA抗凝血样采自河南122名无血缘关系的汉族个体,采用Chelex法抽提DNA,PCR扩增,非变性聚丙烯酰胺垂直凝胶电泳,银染显色分析,得到6个基因座的等位基因频率,各基因座的杂合度分别为：0.62,0.46,0.83,0.59,0.78,0.65;人体识别率分别为0.78,0.66,0.95,0.79,0.92,0.82。6个STR基因座具有较高的杂合度,等位基因分布符合Hardy-Weinberg平衡,是较理想的遗传标记,可用于法医学个本识别和亲权鉴定。     

新疆4个民族STR基因座遗传多态性研究

对新疆维吾尔放族,锡伯族,乌孜别克族,柯尔克孜族4个民族的400份样本和40个家系进行STR基因扫描,基因分型和遗传结构分析。获得了4个民族STR遗传特征及遗传方式等的科学数据。结果为9个STR基因座上维吾尔族有66种STR等位基因,148种基因型;锡伯族有72种STR等位基因,163种基因型;乌孜别克族有65种TSR等位基因,168种基因型;柯尔克孜族有71种STR等位基因,191种基因型,用新疆4个民族的数据和汉族人群,美国高加索人群,美国黑人相比较发现,中国民族遗传特征数据之间差异不显著,而和国外民族相比差异显著,进一步证明中华民族是一个不可分割的大家庭。     

奶牛和肉牛6个STR基因座遗传多态性研究

利用PCR技术和复合电泳银染技术检测奶牛和肉牛BM2113、BM1862、BMc701、BM2934、TGLA122、BM720等6个STR基因座的多态性分布,并计算该6个基因座的基因频率(P_i)、个体鉴别力(DP)、杂合度(H)、多态信息含量(PIC)、和非父排除概率(PE)。结果显示:6个STR基因座的基因型分布符合Hardy-Weinberg平衡,奶牛中6个STR基因座中BM2113基因座的DP、H和PIC最高,TGLA122基因座的PE最高。6个STR基因座的累积个体鉴别力(CDP)为0.99997,累积非父排除能力(CPE)为0.98827。肉牛中6个STR基因座中BM1862基因座的DP、H、PIC、PE都是最高,6个STR基因座的累积个体鉴别力(CDP)为0.99999,累积非父排除能力(CPE)为0.99578。结果表明,6个STR基因座可用于牛的遗传连锁分析、个体识别和亲子鉴定等研究领域。     

中国汉族人群(西安)STR基因扫描与遗传结构

选择9种STR基因位点和Amelogenin基因位点,以测序为基础,研究我国汉族人群STR遗传结构.采用基因自动测序仪建立了10个位点基因分析方法,通过对汉族群体的基因扫描、基因分型和遗传结构分析,获得了STR基因传递特征的大量基因遗传数据,在汉族人群DP为1.05×10-0,EPP为0.9998,为建立我国不同民族STR基因数据库、基因资源研究与保护奠定了基础,为生物考古、基因诊断、性别鉴定、个人识别,司法审判、侦察破案提供有力的科学依据.     

中国广西壮族9个STR基因座遗传多态性研究

选择9个STR基因座（D3S1358、vWA、FGA、TH01、TPOX、CSF1PO、D5S818、D13S317、D7S820）,采用四色荧光标记STR基因扫描技术,对中国广西壮族的群体遗传多态性进行研究,检测91名无关个体血液样本,共检出62种等位片段,其频率分布在0．0054－0．5495之间;检出169种基因型,其频率分布在0．0110－0．3297之间。9个STR基因座的基因型频率期望与观察值均符合Hardy-Weinberg平衡定律（P＞0．05）。9个基因座多态信息量（polymorphic information content)PIC≥0．6088,杂合度（heterozygosity)H≥0．8165。计算种族,民族之间的遗传距离并对之进行比较,结果显示,中国广西壮族与美国白人及美国黑人存在显著差异,与黑人之间的差异大于与白人之间的差异;广西壮族与西安汉族的关系近于与其他少数民族的关系,种族民族之间的聚类分析结果显示,现有资料分为黑种人,白种人和黄种人（我国各民族）3类。     

贵州三都水族Y染色体单倍型频率分析

在92例贵州三都水族个体中,用PCR-RFLP法研究由11个单核苷酸多态位点(SNPs)组成的Y染色体单倍型频率分布,结果显示该人群的Y染色体主要为南方特异的H11和H9单倍型,两者频率高达90.22％。主成分分析结果显示其父系遗传结构与我国黎族、布依族等汉藏语系壮侗语族民族最为接近。通过Y染色体的遗传学观察与历史记载和语言学分类有较好一致性。 Abstract:Non-recombination region of Y-chromosome is a useful marker in tracing evolutionary history of paternal lineage.In the present study,total 92 individuals from Shui ethnic group in Sandu Shui Ethnic Group Autonomous County of Guizhou Province were inspected with 11 SNP sites including M7,M9,M15,M45,M89,M95,M119,M122,M130,M134 and YAP on Y-chromosome.All the subjects were required to be unrelated and without intermarriage with other ethnic groups within three generations.The haplotypes were analyzed by PCR-RFLP method.Four haplotypes H5,H8,H9 and H11 were detected with frequencies of 0.054,0.044,0.315 and 0.587,respectively.Principle component indicated that the paternal lineage of Shui ethnic group is much closer to Li ethnic group of Hainan Province and Bouyei ethnic group of Guizhou Province,which belong to the group of Zhuang-Dong branch of Sino-Tibetan language family.In addition genetic study of Shui coincides with its linguistic distribution.     

内蒙古鄂伦春、鄂温克、达斡尔族人三种酶型遗传多态性分析

用同步电泳分型的方法,对中国内蒙古鄂伦春族、鄂温克族、达斡尔族人506份血痕红细胞酶EAP、ADA、AK1遗传多态性进行了研究,被调查群体中均未检出上述三种酶型的变异型。被调查群体三种酶型基因频率范围分别为EAPA 0.2139～0.2280;ADA10.9500～0.9596;AK1 1.0～0.9963。 Abstract:In the paper the phenotype freguencies of the EAP,ADA and AK1 have been investigated by the emthod of typing of EAP-ADA-AK on the samemixed starch／agarose gel electrophresis among 3 nationalities in Inner Mongolia.(Oroqen,Ewenki and Dawuor.) The distribution of their typy frequencies varied with races. The gene freqrencies DP and CDP were also calculated.     

新疆石河子地区哈萨克族、回族、汉族人群20个STR基因座的遗传多态性研究

为了调查新疆石河子地区哈萨克族、回族、汉族群体20个STR基因座遗传多态性,研究其法医学应用价值,用DNATyper21TM荧光复合扩增试剂盒对3个群体的20个STR基因座进行扩增,并用3500xL基因分析仪对其进行检测.用PowerStats v12、Arlequin v3.5、Phylip-3.695等软件进行统计...     

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。     

青海湖裸鲤mtDNA遗传多样性的初步研究

本文用BclⅠ、AvaⅠ、BamHⅠ、PstⅠ、KpnⅠ、PvuⅡ共6种限制性内切核酸酶,分析了15尾青海湖裸鲤mtDNA的限制性片段长度多态性,共检测出20个酶切位点,发现BclⅠ、BamHⅠ和PvuⅡ三种酶切类型具有多态性.根据不同个体mtDNA的酶切类型,青海湖裸鲤存在4种mtDNA单倍型,计算mtDNA多态度π值为0.0043,初步认为青海湖裸鲤在线粒体DNA上存在较丰富的群体内变异、 Abstract:An analysis of patterns of cleavage of mtDNA by restriction endonucleases was performed for 15 Gymnocypris przewalskii przewalskii.Mitochondrial DNA polymorphisms were detected in the restriction patterns generated by the following 5 enzymes,BclI,AvaI,BamH],PstI,KpnI,PvuII.Only 3 of them (BclI,BantHI,PvuII) were found to be polymorphisms.Our results shorted that there were 4 mtDNA haplotypes in Gyrnnocypris przewalskii przewalskii and the genetic divergenec(π)was 0.0043,which indicated that mtDNA genetic diversity in Gymnocypris przewalskii przewalskii is higher.     

群体遗传不平衡条件下的结构基因遗传共适应特性

本研究以柴达木山羊、柴达木绒山羊和辽宁绒山羊三个群体共147只山羊为材料,利用聚丙烯酰胺凝胶电泳（PAGE）技术检测了5种血液蛋白质（酶）基因座的遗传多态性,并进行了结构基因遗传共适应的研究,结果发现：45个基因座组合中有10个基因座组合处于遗传不平衡状态,并且这些遗传不平衡皆单纯由遗传共适应差异造成;除辽宁绒山羊Tf-PA-3组合的遗传不平衡包含非等位基因间的遗传共适应差异外,其他基因座组合的遗传不平衡皆由等位基因间的共适应差异,即单基因座的遗传不平衡造成;LAP-EsD组合的共适应差异在群体间有遗传传递现象。 Abstract:With the technology of PAGE,the genetic polymorphism of blood protein and enzyme was investigated,and genetic co-adaptability among structural genes was studied in three goat populations(147 goats) including Chaidamu goat(CS),Chaidamu Cashmere goat(CRS) and Liaoning Cashmere goat(LRS) in Qinghai Province,China.The results were showed that the genetic disequilibrium of 10 locus combinations was found among 45 locus combinations in the three goat populations,and these genetic disequilibria were caused only by the difference of genetic co-adaptability among genes,because there didn′t exist the linkage disequilibrium among non-allelic genes.The genetic disequilibrium including the difference of genetic co-adaptability between non-allelic genes was only found at Tf-PA-3 locus combinations in LRS population,the other ones were all caused by the genetic disequilibrium at a single locus.The difference of genetic co-adaptability of LAP-EsD locus combinations could be messaged among different populations.     

中国广东汉族人群核苷酸修复基因hMTH1 遗传多态性研究

为研究中国南方汉族人群核苷酸修复基因hMTH1遗传多态性,应用聚合酶链反应-单链构象多态性技术检测172名健康人外周血白细胞hMTH1基因启动子及全部5个外显子多态性,并进行DNA测序。结果发现hMTH1基因启动子及外显子1序列保守,未见突变;外显子2第73位碱基存在T→C杂合型突变,基因型TT和TC频率分别为93.02%、6.98%,等位基因T和C频率分别为96.51%、3.49％;外显子3第45位遗传密码存在T→C杂合型突变,基因型TT和TC频率分别为95.35%、4.65%,等位基因T和C频率分别为97.67%、2.33%,该多态性为首次发现;外显子4第83位遗传密码存在G→A杂合型突变,基因型GG和GA频率分别为89.53%、10.47%,等位基因G和A频率分别为94.77%、5.23％;外显子5第119位氨基酸遗传密码存在C→T杂合型突变,基因型CC和CT频率分别为95.93%、4.07%,等位基因C和T频率分别为97.97%、2.03％。Abstract: In order to study the genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population, the polymorphisms of the gene’s promoter and its five exons among peripheral blood lymphocytes of 172 Chinese Han people were analyzed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The sequences of the promoter and exon 1 of hMTH1 gene were conserved. A T to C polymorphism was detected at the 73th base in exon2. The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49％, respectively. A T to C polymorphism was detected at codon 45 in exon3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23％, respectively. A C to T polymorphism was detected at codon 119 in exon5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03％, respectively.     

中国阿昌族九个STR基因位点遗传多态性研究

采集云南阿昌族100个无关个体血样,研究该民族9个STR位点和Amelogenin基因位点,采用四色荧光标记STR基因扫描技术,同时检测96个样品,建立云南阿昌族9个STR位点的基因频率数据库,共检测出69种等位基因,其频率分布在0．0050－0．6100,166种基因型,其基因型频率分布在0．0100－0．3900,平均H为0．7381,累积DP为0．9999999,EPP为0．9999989,9个STR位点基因型分布符合Handy-Weiberg平衡定律,为建立我国不同民族STR基因数据奠定了基础,将在人类学,法医学和民族学领域发挥重要的应用价值。