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。     

中国汉族群体5个STR分子遗传标记

为了解中国人5个STR基因座等位片段结构特征,获得汉族群体D2S2955、D3S4014、D20S604、D22S689和GATA198B05基因座的群体遗传学数据。采取成都地区无血缘关系汉族个体血样EDTA抗凝血。Chelex法提取DNA,PCR扩增,非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳分型,自动激光荧光测序仪测定DNA序列。序列分析显示,中国人D2S2955、D3S4014、D20S604基因座具有简单重复序列,而D22S689、GATA198B05基因座具有复杂重复序列。5个STR基因座在成都汉族群体中均具有遗传多态性。揭示了我国汉族人群5个STR基因座的等位基因片段结构特征,为人类群体遗传研究提供了数据,建立的不连续缓冲系统水平电泳分型方法为检测这5个STR基因座提供了简便技术。     

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。     

CYP1A1基因单核苷酸多态性与肺癌的相关性研究

目的:探讨代谢酶CYP1A1基因MspI位点多态性与新疆汉族人群肺癌遗传易感性之间的相关性.方法:应用聚合酶链式反应(PCR)-限制性片段长度多态性(RFLP)技术检测59例新疆汉族肺癌和84例新疆汉族健康人的CYP1A1基因MspI位点多态性分布频率,并分析了CYP1A1基因MspI位点多态性与新疆汉族人群肺癌遗传易感性和患者性别之间的相关性.结果:(1)CYP1A1基因MspI位点3种多态基因型分布频率在两组间比较差异有统计学意义(χ2=6.682,P=0.035),CC基因型在病例组的分布频率显著高于正常对照组.(2)携带突变CC基因型的个体较携带TT基因型的个体患肺癌的危险性增加(OR=3.759.95%CI=1.228-11.494,P=0.035).(3)男女肺癌患者的CYP1A1基因MspI位点基因型及等位基因频率的差异均无显著性(P>0.05).结论:(1)CC突变基因型可能是新疆汉族人群的肺癌易感因素.(2)CYP1A1基因MspI位点多态性可能与新疆汉族肺癌患者的性别无关.     

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。     

北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究

为了调查30个 InDel 位点在中国北京汉族人群中的群体遗传学数据, 并评估其法医学应用价值, 文章采集210名北京汉族无关健康个体外周血样, 提取样本DNA, 采用Investigator ® DIPplex 体系对HLD77等30个InDel 位点进行复合扩增, ABI3130 XL 遗传分析仪进行基因分型, 计算常用法医学参数, 分析群体遗传差异。经 Bonferroni 校正, 30个InDel 位点不存在连锁不平衡现象, 基因型分布符合Hardy-Weinberg 平衡; 各位点DP值为0.2690~0.6330, 累积个体识别力(TDP)为0.999999999985; 三联体累积非父排除率(CPEtrio)为0.98771049, 二联体累积非父排除率(CPEduo)为0.94579456。32例 STR 基因座发生突变的家系样本调查证实上述 InDel 位点未发现突变。结果表明, Investigator® DIPplex 试剂盒中包含的30个InDel 位点在北京汉族群体中具有较好的遗传多态性, 在 STR 存在突变及微量DNA检材等特殊检案中可作为有效的补充检测体系。     

北京汉族群体39个短串联重复序列基因座多态性及其遗传关系

本文首次对北京地区汉族人群的13个CODIS(Combined DNA index system)和26个非CODIS系统STR基因座的遗传多态性进行了研究,建立了北京地区汉族人群39个STR基因座的群体遗传多态性数据库并对其法医学应用价值进行了评价。39个STR基因座的基因型分布均符合Hardy-Weinberg平衡且各基因座之间均不存在连锁现象,个体鉴别力(Power of discrimination, DP)在0.7740~0.9818之间,期望杂合度(Expected heterozygosity, He)在0.6000~0.9350之间,多态性信息含量(Polymorphism information content, PIC)在0.5317~0.9047之间,非父排除率(Power of exclusion, PE)在0.2909~0.8673之间,累积个体鉴别力(Cumulative probability of discrimination, CDP)为0.999999999999999999999999999999999999999964971,累积非父排除率(Cumulative probability of exclusion, CPE)为0.999999999973878。另外,结合已公开报道的国内其他11个群体相应基因座的遗传资料,根据等位基因频率计算遗传距离,构建了系统发生树。本研究可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,对北京地区汉族人群开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。     

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.     

山西省汉族成人8项单基因遗传性状统计分析

为完善人类群体遗传学研究,分析群体遗传结构,对466名山西省汉族大学生鼻梁、酒窝、耳耵聍、鼻孔类型、惯用手、手指嵌合、叠腿、环食指长8项遗传性状进行调查。使用哈迪-温伯格定律计算基因频率,并与其他省份汉族和其他民族人群进行比较。研究表明,食指长(22.5%)和左利手(8.4%)出现频率最低;鼻梁类型(x²>10,P<0.01)、叠腿类型(x²=4.589 3,0.01相似文献   

D3S1358等10个短串联重复序列位点在亲子鉴定中的应用

目的分析广东汕头地区汉族人群的D3S1358、vWA、D16S539、D2S1338、D8S1179、D21S11、D18S51、D19S433、TH01和FCA位点多态性,探索在该人群中联合应用这10个位点进行亲子鉴定的应用价值。方法利用4色荧光标记多重PCR和全自动毛细管电泳技术对短串联重复序列(STR)位点进行基因分型。结果统计分析241例无关个体10个位点的基因频率,所有位点均符合HWE。经计算,D2S1338、FGA、D18S51和D8S1179属于高度多态性位点,D19S433、D21S11、vWA和D16S539属于中高度多态性位点,而D3S1358、TH01多态性方面稍差。10个位点的个人识别能力(DP)、多态性信息总量(PIC)、杂合度(H)和非父排除概率(PE)各指标的累积值均>09999,平均偶合率为98×1013。在114例亲子鉴定中联合应用10个STR位点,7例排除亲子关系的排除指标不少于4个;可以肯定有亲子关系70例,亲子关系概率(RCP)均≥9990%;其余37例RCP<9990%,需要增加鉴定位点,才能得出结论。结论联合应用这10个STR位点,在该地区可成功地开展亲子鉴定,但仍有部分单亲亲子鉴定需要增加STR位点,以期降低误判的风险。     

Polymorphism profile of nine short tandem repeat Loci in the Han chinese

Nine short tandem repeat (STR) markers (D3S1358, VWA, FGA, THO1, TPOX, CSFIPO, D5S818, D13S317, and D7S820) and a sex-identification marker (Amel-ogenin locus) were amplified with multiplex PCR and were genotyped with a four-color fluorescence method in samples from 174 unrelated Han individuals in North China. The allele frequencies, genotype frequencies, heterozygosity, probability of discrimination powers, probability of paternity exclusion and Hardy-Weinberg equilibrium expectations were determined. The results demonstrated that the genotypes at all these STR loci in Han population conform to Hardy-Weinberg equilibrium expectations. The combined discrimination power (DP) was 1.05×10-10 within nine STR loci analyzed and the probability of paternity exclusion (EPP) was 0.9998. The results indicate that these nine STR loci and the Amelo-genin locus are useful markers for human identification, paternity and maternity testing and sex determination in forensic sciences.     

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。     

中国五个民族STR位点遗传多态性（2）

通过对我国汉回蒙藏维５个民族的５０个家系和５００份样本的ＳＴＲ基因扫描、基因分型和遗传结构分析,获得了ＳＴＲ基因传递方式及遗传特征的大量科学数据。研究结果表明在９个ＳＴＲ位点上汉族有６０种ＳＴＲ等位基因,１４９种基因型;回族有６３种ＳＴＲ等位基因,１４４种基因型;蒙古族有６９种ＳＴＲ等位基因,１７３种基因型;藏族有７７种等位基因,１６８种基因型;维吾尔族有７０种ＳＴＲ等位基因,１４８种基因型。中国     

银染法检测短串联重复序列(STR)位点PCR产物鉴别MRC-5细胞

通过采用银染法鉴别短串联重复序列聚合酶链式反应(STR)位点的PCR产物来鉴别人二倍体细胞MRC-5株主细胞库、工作细胞库及限制代细胞。运用PCR方法对细胞库的9个STR位点(CSF1PO、TPOX、TH01、F13A01、FESFPS、vWA、D16S539、D7S820、D13S317)和性别鉴别位点Am elogen in进行扩增,变性聚丙烯酰胺凝胶电泳分离,银染法显影技术,检测MRC-5主细胞库、工作细胞库及限制代细胞的遗传标记。与ATCC公布的MRC-5的荧光STR图谱的8个STR位点和Am elogen in位点相比,MRC-5主细胞库、工作细胞库、限制代细胞的银染STR图谱的9个STR位点和Am elogen in位点,荧光法和银染法重叠的8个位点(CSF1PO、TPOX、TH01、FESFPS、vWA、D16S539、D7S820、D13S317和Am elogen in)数据完全吻合,说明细胞鉴别试验成立。STR图谱作为细胞鉴别的方法简单、易行、准确。     

中国瑶族人群(广西)9个STR基因多态性研究

采用STR基因扫描技术选择D3S1358,vWA,FGA,THO1,TPOX,CSF1P0,D5S818, D13S317 和 D7S820 9种STR基因座,研究我国瑶族人群STR遗传多态性。在瑶族群体中9个STR基因座共检出61个等位基因,其频率分布在0.0054~0.5924,平均杂合度为0.7357,多态信息量为0.6887,累积个体识别率为2.02×10-10,非父排除率为0.9999。结果表明,在人类遗传学、法学科等领域建立本民族本地区遗传学资料是十分重要和必不可少的。 Study on 9 STR Loci Polymorphism from Chinese Yao Ethnic Group(Guangxi) GAO Fang1,BI Shi-hua2,LAI Jiang-hua1,LI Sheng-bin1,2 1.National Laboratory of Forensic Sciences,Xian Jiaotong University,Xi'an 710061; 2.Human Genome Genter,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing 100101 China Abstract:Genetic polymorphism of nine STR loci was investigated from a Chinese Yao population based on STR Genescan.Sixty one alleles was determined for 9 loci,such as D3S1358,vWA,FGA,THO1,TPOX,CSF1P0,D5S818,D13S317 and D7S820 with their frequencies 0.0054~0.5924.The average heterozygosity(H) was 0.7357,polymorphism information content(PIC) was 0.6887,the accumulative discrimination power(DP) was 2.02×10-10 and the probability of paternity exclusion(PPE) was 0.9999.These results suggested that the nine STR loci are very useful for human identification,such as analyzing forensic casework,establishing DNA databases,processing paternity test and studying gene natural resources. Key words：STR;genescan;Yao ethnic group;individual identification     

Nine polymorphic STR loci in the HLA region in the Shaanxi Han population of China

A large number of microsatellite genetic markers have been identified in the human leukocyte antigen (HLA) region. We investigated genetic polymorphism of the nine short tandem repeat (STR) loci (D6S276, MOGCA, D6S265, MIB, D6S273, G51152, TAP1CA, RING3CA, and D6S291) in the HLA region in the Shaanxi Han population. Using a fluorescence-labeled multiplex-PCR STR typing method, 6-13 alleles were detected in these nine STR loci in 150 unrelated Han Chinese from the region of Shaanxi, China. The distributions of the genotypes at these nine loci were in Hardy-Weinberg equilibrium. We conclude that these nine STR loci have a high level of genetic polymorphism; they would be useful for population genetic studies, pre-transplantation HLA typing, forensic and paternity testing, etc.     

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。     

Genetic polymorphism analysis of 15 STR loci in Chinese Hui ethnic group residing in Qinghai province of China

In the present study, we investigated the diversity distributions of allelic frequencies of 15 short tandem repeats (STRs) loci in a sample of Chinese Hui ethnic group in the Ningxia Hui Autonomous Region. The allelic frequencies of the 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were obtained from 2975 unrelated healthy Hui individuals. The STR genotyping data of all the samples were generated by DNA extraction, multiple amplification, GeneScan and genotype analysis. The genetic distances among different populations were calculated by using Nei's method and a phylogenetic tree was constructed based on the allelic frequencies of the same 15 STR loci using the neighbor-joining method. A total of 185 alleles were observed in the Hui population, with the corresponding allelic frequencies ranging from 0.0002 to 0.5322. Chi-Square tests showed that all STR loci were in Hardy-Weinberg equilibrium. The forensic statistical parameters of all the loci showed high values. The population data in this study were compared with the previously published population data from other ethnics or areas. The Hui population showed significant differences from the Minnan Han, Uigur, Ewenki, Yi, Tibetan, Maonan and Malay ethnic minority groups in some loci, and from the South Morocco population and the Moroccan population in all the loci. Our results are valuable for human individual identification and paternity testing in the Chinese Hui population and are expected to enrich the genetic information resources of Chinese populations.