Genetic diversity at two pentanucleotide STR and thirteen tetranucleotide STR loci by multiplex PCR in four predominant population groups of central India

Genetic diversity study at STR loci in 208 individuals belonging to two backward groups, one caste and one tribal community of Central India called "Chhattisgarh" has been carried out to evaluate significance of Powerplex System loci in human identification and population diversity. Populations are Agharia (72), Satmani (50), Dheria Gond (36) and Teli (50). Fifteen loci (Powerplex 16 Kit) studied are Penta E, D18S51, D21S11, THO1, D3S1358, FGA, TPOX, D8S1179, vWA, Amelogenin, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818. The studied penta nucleotide STR (two) and 13 tetranucleotide (CODIS ) STR are found to be highly polymorphic genetic markers in all studied populations. Most common allele for the four studied population has been found to be same at THO1 (allele 9), D8S1179 (allele 14), CSF1PO (allele 12), Penta E (allele 11) and D16S539 (allele 11). Penta E is found to be most polymorphic (PD=0.89373) among studied 15 STR loci in four populations of Central India.     

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.     

Allele frequencies of 13 short tandem repeat (STR) loci in the Romanian population

A population study on 13 tetra- and pentameric STR loci (D3S1358, VWA, D8S1179, D21S11, D18S51, D16S539, D2S1338, D19S433, THO1, FGA, ACTBP2 (SE33), Penta D and Penta E) was performed with Romanians from the Bucharest area.     

Development of a novel miniSTR multiplex assay for typing degraded DNA samples

A multiplex PCR was developed for the analysis of the sex-determining gene Amelogenin, four conventional STR (short tandem repeat; THO1, D18S51, D21S11 and FGA) loci with a reduced amplicon size and four miniSTR loci (D1S1677, D2S441, D10S1248 and D22S1045). A concordance study in a population of 198 Belgians revealed no differences for the conventional STR loci while a sensitivity study showed a reproducible DNA profile with as low as 30 pg of input DNA.     

Population genetics of nine STR loci in two populations from Brazil

The Short Tandem Repeats (STRs) D3S1358, HUMvWA31/A, HUMFIBRA/FGA, D8S 1179, D2S11, D18S51, D5S818, D13S317, and D7S820 were studied in two Brazilian populations (from Amazonia and S. Paulo) using the "AmpF1 STR Profiler Plus PCR Amplification Kit." The nine loci showed a combined discrimination power greater than 0.9999999999 and a chance of exclusion of 0.9999.     

Identifiler^TM系统在亲子鉴定中的突变观察和分析

目的观察和分析IdentifilerTM系统15个短串联重复序列(STR)位点在亲子鉴定中的突变现象。方法用IdentifilerTM试剂盒检测2712例亲子鉴定案例。结果在2362例认定亲子关系的案例中,观察到51例中有1个STR位点发生突变。突变的位点包括D8S1179、D21S11、D7S820、CSF1PO、D3S1358、D13S317、D16S539、D2S1338、D19S433、vWA、D18S51、D5S818和FGA。其中以D21S11位点突变率最高(0.369%);突变的等位基因来自父亲36次,来自母亲7次,无法确定9次。结论STR位点突变是较为常见的现象,采用IdentifilerTM系统进行亲子鉴定,遇到1～2个STR位点不符合遗传规律时,有必要增加突变率低、稳定性好的STR位点进行复核。     

Allele frequencies of 19 STR loci in a Philippine population generated using AmpFlSTR multiplex and ALF singleplex systems

Allele frequencies for the 19 short tandem repeat (STR) loci CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S306, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, DHFRP2 (FOLP23), F13A01, FES/FPS, FGA, TH01, TPOX, and vWA were obtained from a sample of 106 unrelated Filipinos from different regions of the Philippine archipelago.     

测序方法验证12个STR基因座的基因型

目的 用测序方法验证12个STR基因座的基因型.方法 根据各STR基因座的特异性序列,对CSF1PO、FGA、TH01、TPOX、VWA、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51和D21S11 12个STR基因座设计了PCR引物并对标准品9947A和突变样本进行PCR产物测序.结果 标准品9947A和突变样本的测序结果均与其基因分型结果一致.结论 建立的测序方法准确、灵敏,可以用于STR基因型的确认.     

Mutations of short tandem repeat loci in Identifiler system

OBJECTIVE: To explore and analyze the mutations of 15 Short Tandem Repeat (STR) loci using Identifiler system in paternity identification. METHODS: 2712 cases of paternity testing were carried out using Identifiler PCR Amplification Kit. RESULTS: Of the 2362 paternity testing cases, mutations of single locus were observed in 51 cases. The mutation loci included D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D5S818 and FGA, with the D21S11 locus having a highest mutation rate (0.369%). Thirty-six of the STR mutations were from paternal source, 7 from maternal source, and the rest (9) were undeterminable. The mutation rates at D21S11 were highest (0.369%). CONCLUSION: Mutations of STR loci are relatively common in human genome. Therefore, retesting of additional relatively stable STR loci with lower mutation rates is necessary when one or two loci exclusions are encountered in paternity testing.     

亲子鉴定中STR基因座的基因突变分析

目的探讨Identifiler^TM荧光标记复合扩增试剂盒15个STR基因座在亲子鉴定中的基因突变特点。方法应用Identifiler^TM荧光标记复合扩增试剂盒检测676例亲子鉴定案，对其中1～2个突变基因座加做HLA等位基因检测或Y—STR基因座检测。结果在认定亲子关系的676例中，观察1304次减数分裂，Identifiler^TM荧光标记复合扩增试剂盒中的15个基因座确定19例突变，其中D18S51基因座4例，D2S1338基因座3例，D8S1179、D16S539、vWA、D7S820、D13S317基因座各2例，D5S818和TH01基因座各1例，D21S11、FGA、D3S1358、D19S433、TPOX、CSF1P0基因座未见突变；一步突变的17例，二步突变的为1例，四步突变的1例；1个基因座发生突变的18例，2个基因座同时发生基因突变的为1例；突变来自父亲与来自母亲的比例为13：2，4例来源不能确定。结论用Identifiler^TM荧光标记复合扩增试剂盒检测到1—2个基因座发生突变，须增加对其它遗传标记的检测。     

STR data for 11 autosomal STR markers from Costa Rica, Central America

Allele frequencies for 11 STR autosomal loci (F13A01, F13B, FESFPS, LPL, CSF1PO, TH01, TPOX, VWA, D16S539, D7S820 and D13S317) were obtained from a sample of 200 unrelated individuals from Costa Rica, Central America.     

Genetic polymorphism at 15 STR loci among three important subpopulation of Bihar,India

Genotype polymorphism studies at 15 highly polymorphic short tandem repeat (STR) loci were carried out in three genetically important minor caste groups (Yadav, Kurmi and Baniya) of Bihar, a eastern state of India to evaluate their significance in human identification and population genetics study. The selected communities practice endogamy. Despite of same geographical area, the physical features of Yadavs and Baniyas resemble North Indian Indo-Caucasoids whereas Kurmis resemble more to Indo-Austroloids. Among the chosen 15 loci, two are penta-nucleotide repeat: Penta-D and Penta-E, and 13 are tetra-nucleotide repeat: vWA D8S1179, TPOX, FGA, D5S818, D13S317, D7S820, D16S539, D3S1358, THO1, CSF1PO, D21S11, D18S51 and are validated for other population of India and world for forensic testing and human population study. Thirteen of these STR loci are present in the combined DNA index system (CODIS) [J. Forensic Sci. 44 (1999) 1277] and world-wide data is available.     

Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations

Allele frequencies, together with some parameters of forensic interest, for 17 STRs included in the AmpF/STR Identifiler (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPO and VWA) and Powerplex 16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPO and VWA) were estimated from a sample of 135-144 unrelated individuals from Mozambique. No deviations from Hardy-Weinberg equilibrium were observed with the exception of the FGA locus (using the Bonferroni correction for the number of loci analysed, the departure observed at this locus was not significant). Comparative analyses between our population data and other African databases, namely Promega's African-Americans, AB Applied Biosystems African-Americans and two other population samples from Mozambique and Guiné Bissau, are presented and discussed. Genotype inconsistencies between both commercial kits (for D16S539 and D8S1179) and other genotypic variations (three-banded allele patterns for TPO) are also reported.     

Genetic data on 11 STRs (CSF1PO,TPOX, TH01, F13A01, FESFPS,vWA, D16S539, D7S820, D13S317, F13B,LPL) in an Argentine northeast population

Allele frequencies for 11 short tandem repeats (STRs) loci (CSF1PO, TPOX, TH01, F13A01, FESFPS, vWA, D16S539, D7S820, D13S317, F13B and LPL) were obtained from a sample of 225 unrelated individuals born in the Entre Ríos state of Argentina.     

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.     

Allele frequencies of 15 autosomal STR loci in the Iraq population with comparisons to other populations from the middle-eastern region

Allele frequencies for the 15 autosomal STR loci included in the AmpFlSTR((R)) IdentifilerTM PCR Amplification Kit panel from Applied Biosystems (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, TH01, TPOX, CSF1PO, D19S433, D2S1338, D16S539) and several statistical parameters were estimated from a sample of 103 unrelated individuals, mostly Shia and Sunni Arabs, living in most of central and southern Iraq provinces. We compared the allele frequency spectrum detected in the Iraqi population to allele frequencies from 11 other data sets from published studies of individuals from Turkey, Iraqi-Kurdistan, Saudi Arabia, Arab Emarates, Oman, Iran, Syria, and Jordan. Significant global differences in allele frequencies were detected in 9 of the 11 comparisons following sequential Bonferroni corrections. Comparisons with the two independent panels from Saudi Arabia were not significant after applying Bonferroni corrections, however, low P-values (P<0.05) associated with these two contrasts nonetheless suggested that at least slight genetic differences between populations may exist.     

Genetic data on 19 STR loci in south-east Poland

Allele frequencies for the 19 STRs loci, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, CSF1PO, F13A01, F13B, FESFPS, FGA, LPL, Penta D, Penta E, TH01, TPOX and VWA were obtained from a sample of 203-1188 unrelated individuals living in the area of south-east Poland.     

复合扩增18个基因座的初步研究

目的建立五色荧光18个基因座的复合扩增检验体系。方法设计、合成引物,通过调整引物浓度和复合扩增条件,建立起五色荧光复合扩增体系,包含Amelogen、D6S1043、D21S11、D7S820、CSF1PO、D2S1338、D3S1358、D13S317、D8S1179、D16S539、PentaE、TH01、TPOX、PentaD共计18个基因座。结果该复合扩增系统检验结果稳定,分型准确。结论五色荧光18个基因座复合扩增系统构建成功。     

17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola)

Allele frequencies for seventeen STRs included in the AmpF/STR Identifiler (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, and VWA) and Powerplex 16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPOX, and VWA) were estimated from a sample of 110 unrelated individuals from Cabinda, Angola. Comparative analyses between our population data and other African databases, namely Promega's African-Americans, AB Applied Biosystems African-Americans and five other population samples gathered from the literature are also presented.     

STR data for the AmpFlSTR Profiler Plus and COfiler loci from the Maghreb (North Africa)

Allele frequencies for 13 STRs (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO and D16S539) included in the AmpFlSTR Profiler Plus and COfiler kits were determined for a population sample from the Maghreb (Northern Africa).