Fluorescent multiplex analysis of nine STR loci: Spanish population data

A total of 171 Caucasians living in Andalucia (southern Spain) have been typed for nine short tandem repeat (STR) loci by multiplex PCR amplification using a commercially available kit (Profiler Plus; Perkin–Elmer, Norwalk, CT, USA) and semi-automatic electrophoresis (ABI Prism 377 DNA Sequencer, Applied Biosystems, Foster City, CA, USA). The kit enables typing of the STR loci D3S1358, VWA, FGA, D5S818, D13S317, D7S820, D8S1179, D21S11, and D18S51. All loci, except D7S820, meet Hardy–Weinberg equilibrium. Because of the large number of loci that can be analyzed, the power of discrimination (PD) is greater than 0.99999, and the probability of exclusion (PE) reaches 0.99991 in our population sample.     

Allele frequencies of six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) in a Spanish population

Allele frequencies and forensic parameters for six miniSTR autosomal loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) were obtained from a sample of 264 unrelated individuals from Spain. No significant deviations from Hardy-Weinberg expectations were found. Due to the small PCR products (<125 bp), the use of these non-CODIS (NC) miniSTRs can increase the probability that a degraded sample can be typed. Additionally, these systems can be used in routine paternity analyses where more markers are needed to increase the power of exclusion or in complex paternity cases (e.g. involving closely related individuals).     

Allele frequencies data and statistic parameters for 16 STR loci-D19S433, D2S1338, CSF1PO, D16S539, D7S820, D21S11, D18S51, D13S317, D5S818, FGA, Penta E, TH01, vWA, D8S1179, TPOX, D3S1358-in the Rio de Janeiro population, Brazil

Allele frequencies for 16 short tandem repeats (STR) loci were determined with a sample of 230-300 unrelated individuals from the population of Rio de Janeiro, Brazil. The loci are the most commonly used in forensic and paternity testing, being analysed by the Identifiler (Applied Biosystems) and PowerPlex 2.1 (Promega) commercial kits. It was proved that Penta E and D18S51 are the most polymorphic loci.     

D6S1043和D12S391基因座在亲权鉴定中的应用

目的研究D6S1043和D12S391基因座在亲权关系鉴定案件中的应用价值。方法应用荧光标记复合扩增系统对日常检案中所收集的192名汉族无关个体血样DNA进行PCR扩增,用ABI3100-Avant遗传分析仪对扩增产物进行毛细管电泳,用GeneMapperv3.2软件进行基因分型,统计分析D6S1043和D12S391基因座的多态信息。结果在D6S1043和D12S391基因座分别发现12个等位基因,它们在中国汉族人群中的个体识别能力分别为0.9656和0.9510,二联体非父排除率分别为0.573和0.510,三联体非父排除率分别为0.731和0.679。结论D6S1043和D12S391基因座具有高度多态性,在亲权鉴定中具有重要应用价值。     

The distribution of D1S80 and VWA alleles in a Karen population from Northern Thailand

The DIS80 and VWA loci were studied in a Karen population from Northern Thailand by the polymerase chain reaction and polyacrylamide gel electrophoresis. Twelve DIS80 and six VWA alleles were found. No deviations from the Hardy-Weinberg and linkage equilibrium were observed. The power of exclusion (PE) from the analysis of the DIS80 and VWA locus is 0.67 and 0.45, respectively, the power of discrimination (PD) is 0.95 and 0.85, respectively, with a combined PD of 0.99 and PE of 0.82.     

Zimbabwe black population data on the six short tandem repeat loci – CSF1PO, TPOX, THO1, D3S1358, VWA and FGA

Allele frequencies for six tetrameric short tandem repeat (STR) loci CSF1PO, TPOX, THO1, D3S1358, VWA, and FGA were determined in a Black African sample population from Zimbabwe. All loci are highly polymorphic and meet Hardy-Weinberg expectations. An inter-class correlation test analysis detected only one departure from independence out of 15 pair-wise comparisons of the six loci (i.e., CSF1PO/VWA loci, P=0.026). The allele frequency data at four of the six STR loci in the Black African sample population are similar to African American data.     

Updated Brazilian genetic data, together with mutation rates, on 19 STR loci, including D10S1237

Allelic frequencies for 19 STR loci (F13B, TPOX, D3S1358, FGA, CSF1PO, D5S818, F13A01, D7S820, D8S1179, D10S1237, TH01, VWA, D13S317, FESFPS, Penta E, D16S539, D18S51, D19S253, and D21S11) were obtained from an average of 13,000 unrelated Brazilian adults undergoing parentage testing. D10S1237 is a tetranucleotide repeat locus shown to be useful for forensic and paternity studies. Null allele frequencies and mutation rates were ascertained from this population sample.     

复合扩增D16S539、D7S820、D13S317基因座的DNA分型及法医学应用

通过对3个位于不同染色体上的STR基因座（D165539,D7S820,D13S317）所组成的复合扩增体系的DNA分型研究,以期在实际法医物证检验中增加检验基因座,以提高总的个体识别率。笔者运用复合扩增技术,经4％变性聚丙烯酸胺凝胶电泳分离扩增产物和银染检测,首次对108个无关中国人个体的D16S539,D7S820,D13S317基因座进行研究,检测出中国人群中3个基因座的等位基因数均为7个;偶合率P（m）分别为0．0847、0．0740、0．0741;个体识别率DP值分别为0．9153、0．9260、0．9259;杂合度分别为77．7％、79.1％、79．3％;各基因座亲子关系指数PItypical分别为2．24、2．39、2．42。3个STR基因座总的个体识别率很高,达0．9995;总的亲子关系指数PItypical达12．96;所有基因座经卡方检验符合Hardy－Weinberg平衡。通过以上数据可以看出,D165539,D7S820,D13S317基因座所组成的复合扩增体系在中国人群中等位基因分布较好,个体识别率很高,适合用于法医个体识别及亲子鉴定。     

Maine Caucasian population DNA database using twelve short tandem repeat loci

A population study of Caucasians residing in Maine was conducted using the AmpF1STR Profiler PCR Amplification Kit and the AmpF1STR Profiler Plus PCR Amplification Kit (Applied Biosystems Division (ABD) of Perkin Elmer, Foster City, CA). The kits contain the reagents necessary to amplify 12 different STR loci and the gender marker Amelogenin using two multiplex PCR, each containing nine STR loci. Thus, there is an overlap of six STR loci. The 12 STR loci are TH01, TPOX, CSF1PO, D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, and D7S820. These loci represent 12 of the 13 core loci selected by the CODIS STR standardization project. Dye-labeled amplification products were separated and detected using the capillary electrophoresis instrument ABI Prism 310 Genetic Analyzer. Allele frequencies were determined for the 12 STR loci. Statistical analysis of the data included Hardy-Weinburg equilibrium (HWE) analysis, pairwise independence testing, power of discrimination (PD), and probability of exclusion (PE).     

武汉汉族人群STR基因座D3S1358、D13S317、D12S391的多态性研究

目的　调查中国武汉地区汉族人群STR基因座—D3S1 358、D1 3S31 7、D1 2S391基因频率分布和群体遗传数据。方法　从 2 0 8个汉族无关个体收集血液标本 ,应用PCR技术及聚丙烯酰胺凝胶垂直板电泳对D3S1 358、D1 3S31 7和D1 2S391基因座分型。结果　D3S1 358检出 7个等位基因和 4 1个基因型。三基因座基因型分布符合Hardy-Weinberg平衡。观察 2 31次减数分裂均未发现突变基因。另外 ,调查结果计算显示D3S1 358、D1 3S31 7和D1 2S391基因座的杂合度 (H)分别为 0 70 98、 0 80 56和 0 84 0 0 ;三个人识别能力 (DP)分别为 0 851 6、 0 9332和 0 952 3;非父排除率 ( pE)分别为 0 4 463、 0 60 1 6和 0 681 8。结论　D3S1 358、D1 3S31 7和D1 2S391基因座在群体遗传学研究和法医学亲子鉴定及个人识别中具有较高实用价值     

D3S1754、D18S535基因座在中国北方汉族的多态性分析

目的 了解D3S1754、D18S535基因座多态性在中国北方人群中的分布特点及其应用价值。方法 使用PCR、聚丙烯酰胺垂直板电泳及银染的方法。结果D3S1754基因座检出9个等位基因（n=184）,D185535基因座检出8个等位基因（n=201）,两个位点的等位基因频率在群体中的分布符合Hardy-Weinberg平衡（P>0.05）,它们的杂合率（He）分别为0.706和0.807,个人识别机率（DP）分别是0.859和0.934,非父排除率（EPP）分别为0.464和0.629。结论 D3S1754、D18S535两个遗传标记的个人识别率高、非父排除能力较强且能稳定遗传,具有较高的应用价值。     

成都汉族、甘肃东乡族群体D10S1432和D10S1213 位点的遗传多态性分析

目的本研究的目的是了解人类基因组中D10S1432及D10S1213两个STR位点在成都汉族和甘肃东乡族群体中的遗传多态性分布及两个群体之间的关系。方法采用PCR、聚丙烯酰胺凝胶电泳及银染技术,共调查了209例样本。结果在D10S1432位点上观察到5个等位基因,15种基因型。在D10S1213位点上观察到9个等位基因,31种基因型。两位点的基因型频率在调查的两个群体中的分布符合Hardy-Weinberg平衡定律（P>0.05）。经统计,D10S1432在这两个群体中的杂合度为0.664和0.737,个人识别几率为0.827和0.820。D10S1213的杂合度为0.664和0.657,个人识别几率为0.836和0.882。结论结果表明,D10S1432和D10S1213两个位点在法医学个人识别和亲子鉴定中有较高应用价值。     

Allele frequencies for nine STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) in the Italian population

Genotype and allele frequencies for STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 were investigated in 289 unrelated Italian Caucasian individuals from the North and South regions. After co-amplification by polymerase chain reaction, automatic DNA profiling of these nine STR loci was performed by ABI PRISM((R)) 310 DNA Genetic Analyzer. For each locus, statistical parameters for forensic and paternity purposes were then calculated; the combined power of discrimination and the combined power of exclusion of all nine loci were 0.9999999999917 and 0.99992 for the Northern population and 0.9999999999921 and 0.99991 for the Southern population.     

Swiss Caucasian population data for 13 STR loci using AmpFISTR profiler plus and cofiler PCR amplification kits.

Allele and genotype frequencies for the 13 core STR loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO, and D16S539) were determined in a Swiss Caucasian population sample (n = 206) using two commercially available multiplex PCR kits (AmpFISTR Profiler Plus and AmpFISTR Cofiler) and subsequent electrophoresis on an ABI PRISM CE 310 Genetic Analyzer instrument. All loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the 13 loci. The allelic frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a multiple STR locus DNA profile in the Swiss population.     

1066例新疆汉族人群21个常染色体STR基因座遗传多态性分析

目的研究21个常染色体STR基因座(CSF1PO,D3S1358,D5S818,D7S820,D8S1179,D13S317,D16S539,D18S51,D21S11,FGA,TH01,VWA,D2S1338,D19S433,D1S1656,D12S391,D2S441,D10S1248,TPOX,D22S1045,SE33)在新疆汉族人群中的遗传多态性。方法用GlobalFiler^TM R PCR Amplification荧光标记试剂盒对1066例新疆汉族无关个体的DNA进行PCR扩增,3500遗传分析仪电泳分析,用GeneMapper■ID-X v1.4软件分析等位基因片段大小,用Modified-Powerstates和Arlequin v3.5分析软件进行等位基因频率和法医学常用参数统计分析。结果在新疆汉族人群中,21个常染色体STR基因座不存在连锁不平衡现象,基因型分布符合Hardy–Weinberg平衡,共检出282个等位基因和1147种基因型,杂合度期望值(He)范围从0.6291(TPOX)到0.9428(SE33),多态信息含量(PIC)范围从0.5648(TPOX)到0.9393(SE33),累计个体识别率(CDP)>0.99999999999999999999。结论新疆汉族人群21个常染色体STR基因座具有较高多态性,可以用于法医学亲权鉴定和个体识别,也可以用于人类学和遗传学研究。     

Population genetics of the D1S1656, D12S391, and D18S535 loci in Asturias (North Spain)

Allele and genotype frequencies for three recently described short tandem repeat loci D1S1656, D12S391, and D18S535 were determined in a population sample from Asturias (North Spain). The loci were amplified using a fluorescence based PCR method and were typed automatically. No deviation from Hardy-Weinberg expectations were observed. The three loci proved to be highly discriminating and the allele frequencies observed are similar to those of the other European populations that have been typed for these loci to date.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Allele frequencies of nine STR loci--D16S539, D7S820, D13S317, CSF1PO,TPOX, TH01, F13A01, FESFPS and vWA--in the population from Alagoas,northeastern Brazil

The polymorphism of nine STR loci has been studied in a sample of 598 individuals from the population of Alagoas, Northeastern Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The most polymorphic loci were TH01 and D7S317. The exact test demonstrated that the nine loci analyzed in the population have no deviation from Hardy-Weinberg equilibrium (P > 0.05).     

Allele frequencies of nine STR loci—D16S539, D7S820, D13S317, CSF1PO, TPOX, TH01, F13A01, FESFPS and vWA—in the population from Alagoas, northeastern Brazil

The polymorphism of nine STR loci has been studied in a sample of 598 individuals from the population of Alagoas, Northeastern Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The most polymorphic loci were TH01 and D7S317. The exact test demonstrated that the nine loci analyzed in the population have no deviation from Hardy–Weinberg equilibrium (P>0.05).     

Allele distribution of 15 PCR-based loci in the Rwanda Tutsi population by multiplex amplification and capillary electrophoresis

A genetic study of 15 autosomal STRs is carried out (D2S1338, D3S1358, D5S818, D7S820, D8S1 79, D13S317, D16S359, D18S51, D19S433, D21S11, CSF1PO, FGA, TPOX, THO1, VWA) in a sample of unrelated Tutsis. The molecular phenotypes were determined by means of multiplex strategies (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems) followed by capillary electrophoresis.