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.     

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。     

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.     

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。     

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。     

西藏那曲地区藏族人群15个短串联重复序列位点多态性的研究

利用基因扫描技术调查西藏自治区那曲地区藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818及FGA共15个短串联重复序列(STR)基因座多态性分布,获得15个基因座的群体遗传学数据。结果显示:15个STR位点在那曲地区藏族人群中具有遗传多态性,基因型分布符合Hardy-Weinberg平衡,DP在0.758 8—0.960 4之间,H在0.476 2—0.862 0之间,PIC在0.446 4—0.861 5之间,EPP在0.385 0—0.856 0之间,累积个体鉴别力为0.999 999 999,累积非父排除率为0.999 999 998。15个STR位点适合作为那曲地区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。     

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．     

甘肃地区回族人群18个STR基因座的遗传多态性

研究了D5S818、D8S1179、D7S820、CSF1PO、D2S1338、D3S1358、v WA、D21S11、D16S539、Penta E、TPOX、TH01、D19S433、D18S51、FGA、D6S1043、D13S317、D12S391等18个短串联重复序列(short tandem repeats,STR)基因座在甘肃地区回族人群的遗传多态性。采用荧光标记复合扩增及毛细管电泳技术对1 038名甘肃地区回族无关个体18个STR基因座进行分析。研究结果显示,1 038名甘肃地区回族个体在18个STR基因座上,共检出223种等位基因,982种基因型,其分布均符合Hardy-Weinberg平衡(P0.05),18个基因座的杂合度(H)介于0.601~0.929之间,匹配概率(Pm)介于0.012~0.213之间,个体识别概率(DP)介于0.787~0.988之间,多态信息含量(PIC)介于0.550~0.920之间,非父排除概率(PE)值介于0.292~0.854之间。本文研究结果对甘肃地区回族人群群体遗传学及法医学后续研究应用具有参考价值。     

用毛细管电泳技术对北京汉族人群9个STR基因座遗传多态性的研究

为对北京汉族D3S1358、vWA、FGA、D8S1179、D21S11、D18S51、D5S818、D13S317及D7S820等9个STR基因座的遗传多态性进行群体遗传学研究,利用荧光标记复合扩增及毛细管电泳自动荧光检测的方法,对236名无关个体获得9个STR基因座等位基因的分布频率,结果均符合Hardy-Weinberg平衡.计算了各基因座的杂合度（H）、个人识别能力（DP）、偶合率（PM）、非父排除率（EPP）和多态性信息总量（PIC）等群体遗传学数据.结果表明,这9个STR基因座多态性好,灵敏度高,可用于人类遗传分析及法医学中的亲子鉴定和个人识别.     

中国美利奴(新疆军垦型)绵羊9个微卫星基因座多态性研究

利用PCR技术和复合电泳银染技术检测中国美利奴(新疆军垦型)绵羊第1号染色体上BM6506,BM1824,BM6438, ILSTS004和OarDB6 等5个基因座和第6号染色体上 BM4621,OarHH55,BM143和OarJMP8 等4个基因座,共9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：9个微卫星基因座的基因型分布符合Hardy-Weinberg平衡,绵羊中9个微卫星基因座中BM4621 基因座的DP、H、PIC和PE都为最高。9个微卫星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0.99915。结果显示9个微卫星基因座适用于中国美利奴(新疆军垦型)绵羊的遗传连锁分析、个体识别和亲权鉴定等研究领域。     

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.     

微卫星在种公牛个体识别与亲缘鉴定方面的应用

采用美国ABI公司牛亲子鉴定试剂盒(Bovine Paternity PCR Typing Kit, 包括11个常染色体)和3个自选的Y染色体微卫星座位, 检测我国部分种公牛站肉用种公牛14个微卫星座位的多态性分布, 评估其遗传多样性, 并探讨其用于个体识别与亲缘鉴定的可行性。结果表明: 种公牛在14个微卫星座位中遗传多样性均较高, 其中MCM158座位的平均多态信息含量最高达到0.888, ETH10座位的最低, 为0.482。单个座位的个体识别能力在0.715~0.968之间, 累积个体识别能力为99.99%, 累计非父排除率达到99.99%, 表明采用的14个位点适用于个体识别和亲缘鉴定。     

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     

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     

Paternity testing and forensic DNA typing by multiplex STR analysis using ABI PRISM 310 Genetic Analyzer

Short tandem repeats (STRs) are widespread throughout the human genome and are a rich source of highly polymorphic markers which can be detected by PCR. To gain a better appreciation for how the polymorphism at a particular locus impacts the individual identity, the present study was undertaken to explore the use of 15 STR loci in forensic investigation and paternity testing. Multiplex STR typing was used to study the 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) in addition to a gender identification marker, amelogenin, by capillary electrophoresis on 310 Genetic Analyzer. Samples from 85 trio and duo cases of disputed paternity were investigated. The data were analyzed to give information on paternity index, probability of paternity, frequency of number of exclusions and rate of mismatch at each STR locus. The method was also successfully applied to forensic personal identification in theft and murder cases. The results demonstrated that the STR typing is a reliable and robust tool for analyzing the forensic practice as well as for paternity testing. The advantages of using multiplex STR analysis over other conventional methods are discussed.