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.     

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     

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.     

Genetic analysis of 15 STR loci in Chinese Han population from West China

Allele frequencies for 15 short tandem repeat （STR） loci （D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA） were obtained from 7,636 unrelated individuals of Chinese Han population living in Qinghai and Chongqing, China. Totally 206 alleles were observed, with the corresponding allele frequencies ranging from 0.0001-0.4982. Chi-square test showed that all of the STR loci agreed with the Hardy-Weinberg equilibrium. We also compared our data with previously published population data of other ethnics or areas. The results are valuable for human identification and paternity testing in Chinese Han population.     

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.     

北京地区汉族群体D1S1612和D18S535基因座的遗传多态性

采用扩增片段长度多态性（Amp-FLP）分型技术,调查中国北京地区汉族群体D1S1612、D18S535 基因座的遗传多态性,获得等位基因频率分布。结果显示, D1S1612检出9个等位基因,25种基因型, D18S535检出9个等位基因,27种基因型。两个STR基因座的杂和度（H）分别为0.779、0.887;个人识别率（Dp）分别为0.901、0.927;非父排除率（PE）分别为0.564、0.770;多态信息容量（PIC）分别为0.723、0.796,卡方检验表明两个STR 基因座基因型频率分布符合Hardy-Weinberg平衡 (P>0.01 )。D1S1612和D18S535 基因座均属高杂合度、高识别能力的遗传标记,可用于法庭科学亲子鉴定和个人识别。 Abstract: To investigate the genetic polymorphism of D1S1612 and D18S535 in Han population of Beijing. Amp-FLP method was used. 9 alleles, 25 genotypes were observed for D1S1612 locus; and 9 alleles and 27 genotypes for D18S535 locus. All allele frequencies, heterozygosity (H), discrimination power (Dp), exclusion of paternity probability (PE) and polymorphism information content (PIC) were calculated. The allele distributions of the two loci were conformed to Hardy-Weinberg equilibrium (P>0.01). According to the results obtained in this study, it is suggested that both D1S1612 and D18S535 are useful genetic markers for individual identification and paternity testing in forensic science practice as well for genetic study.     

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.     

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.     

Genetic diversity of the endangered species Rosa rugosa Thunb. in China and implications for conservation strategies

Rosa rugosa Thunb. is one of the dominant and important shrub species in estuary dunes and shingle beaches of northern China. However, its area of distribution, the number of populations, and the size of each population have decreased rapidly in the past two decades because of habitat degradation and loss. Random amplified polymorphic DNA markers were used to determine the genetic diversity of four remaining large natural populations of R. rugosa and to discuss an effective conservation strategy for this endangered species in China. High genetic variations were detected in R. rugosa populations in China. The mean percentage of polymorphic loci （P%） within four local populations was 57.99%, with the P% of the total population being 75.30%. Mean Shannon＇s information index （H0） was 0.2826, whereas total Ho was 0.3513. The genetic differentiation among populations was 0.1878, which indicates that most genetic diversity occurs within populations. Population Tumenjiang （TMJ） showed the highest genetic diversity （P% = 66.27%; H0 = 0.3117） and contained two exclusive bands. Population Changshandao （CSD） showed higher genetic diversity （P% =59.04%; H0 = 0.3065）. Populations TMJ and CSD contained 95.33% and 99.33%, respectively, of loci with moderate to high frequency （P〉0.05） of the total population. These results indicate that populations TMJ and CSD should be given priority for in situ conservation and regarded as seed or propagule sources for ex situ conservation. The results of the present study also suggest that R. rugosa in China has become endangered as a result of human actions rather than genetic depression of populations; thus, human interference should be absolutely forbidden in R. rugosa habitats.     

湖羊、同羊12个同工酶座位的检测

Gene frequencies of Hu sheep and Tong sheep were obtained with “Random sampling in typical colonies of a central area“.of the 12 loci tested in Hu shpee.11 loci were polymorphic.Reliability of the estimated frequencies of 27 alleles reached 0.95 except for Po^F,Tf^A,Tfd,Hb-β^A and CAF which had reliabilities of 0.5222,0.7478,0.5222,0.6212 and 0.899,respectively,Of the 12 loci tested in Tong sheep,11 loci were polymorphic.Reliability of the estimated frequency of 25 alleles reached 0.95 except for Tf^A,Tf^E and CAF which had reliabilities of 0.931,0.6922 and 0.7924,respectively.The average heterozygosity(H) and average homozygosity(J) was computed and the J of the two sheep colonies was 0.6619 and 0.6448,respectively.Consistent with our conclusions based on genetic data,previous research divided the native sheep populations of East and South Central Asia into three group:the “mongolian group“ “south-Asian group“and “European group“ .Consequently,the degree of genetic similarity between populations and known groups would seem to provide a reliable means of determining the genetic relationships between populations and may reflect the true genetic origin of Hu sheep and Tong sheep in China.     

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。     

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.     

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     

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（1～1．6×10^-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．     

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。     

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.     

西藏藏族人群15个短串联重复序列基因座的遗传多态性

利用多重PCR五色荧光(6FAM、VIC、NED、PET、LIZ)自动化检测技术检测西藏自治区藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818及FGA共15个STR基因座遗传多态性, 获得15个STR基因座的群体遗传学数据。结果显示：15个STR基因座的基因型分布符合Hardy-Weinberg平衡。15个STR基因座的个体鉴别力 (Discrimination power, DP)在0.7555~0.9602之间, 杂合度 (Heterozygosity, H)在0.5651~0.8530之间, 多态性信息含量 (Polymorphism information content, PIC)在0.5528~0.8456之间, 非父排除率(Probability of paternity exclusion, EPP)在0.3811~0.8549之间, 累积个体鉴别力为0.999999999, 累积非父排除率为0.999999998。15个短串联重复序列基因座适合作为西藏藏族人群的遗传标记, 用于人类学、疾病连锁分析、法医学亲子鉴定和个体识别等领域的研究。     

Genetic data provided by 21 autosomal STR loci from Chinese Tujia ethnic group

The aim of this study was to investigate allelic frequency distribution and forensic genetic parameters of autosomal short tandem repeats (STR) loci of the population samples from 107 Tujia individuals from Chinese Hubei Province. Twenty-one autosomal STR genetic markers (D9S1122, D6S474, D6S1017, D5S2500, D4S2408, D3S4529, D2S441, D2S1776, D22S1045, D20S482, D1S1677, D1S1627, D1GATA113, D19S433, D18S853, D17S1301, D11S4463, D12ATA63, D10S1248, D10S1435 and D14S1434) were simultaneously amplified in a new multiplex polymerase chain reaction system. 155 alleles for all the STR loci from the Tujia population were observed and the corresponding allelic frequencies ranged from 0.005 to 0.589. Expected heterozygosity, polymorphic information content, power of discrimination and power of exclusion of the 21 STR loci in the Tujia population were from 0.579 to 0.824, from 0.525 to 0.802, from 0.773 to 0.945 and from 0.257 to 0.641, respectively. Our results indicate that the autosomal STRs multiplex system provides highly informative STR data and could be useful in forensic individual identification and parentage testing in this region.     

拉萨市藏族人群15个STR基因座多态性的研究

利用多重PCR和五色荧光(6FAM、VIC、NED、PET、LIZ)自动化检测技术调查西藏自治区拉萨市藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA共１5个STR基因座多态性分布, 获得了15个STR基因座的遗传学数据。结果显示: 15个STR基因座的基因型分布符合Hardy-Weinberg平衡。 15个STR基因座的个体鉴别力(DP)在0.7515~0.9599之间, 杂合度(H)在0.5576~0.8538之间, 多态信息含量(PIC)在0.5455~0.8458之间, 非父排除率(EPP)在0.3755~0.8520之间, 累积个体鉴别力为0.99999999, 累积非父排除率为0.999999997。15个STR基因座适合作为藏族人群的遗传标志用于人类学、遗传疾病连锁分析、法医学亲子鉴定和个体识别等研究领域。