Analysis of STR loci in Cartagena, a Caribbean city of Colombia

Allele frequencies, together with some parameters of forensic interest were estimated for nine STRs included in the AmpF/STR Profiler kit (CSF1PO, D3S1358, D5S818, D7S820, D13S317, FGA, TH01, TPOX and vWA) in a sample of 215 unrelated individuals from Cartagena (Colombia). For all loci, no significant deviations from Hardy-Weinberg equilibrium were observed. Comparative analysis results between our data and those from other Colombian and African population samples revealed significant differences, except with two Colombian Caribbean Coast sub-regions.     

Analysis of STR loci in Cartagena, a Caribbean city of Colombia

Allele frequencies, together with some parameters of forensic interest were estimated for nine STRs included in the AmpF/STR Profiler kit (CSF1PO, D3S1358, D5S818, D7S820, D13S317, FGA, TH01, TPOX and vWA) in a sample of 215 unrelated individuals from Cartagena (Colombia). For all loci, no significant deviations from Hardy-Weinberg equilibrium were observed. Comparative analysis results between our data and those from other Colombian and African population samples revealed significant differences, except with two Colombian Caribbean Coast sub-regions.     

Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel

The CEPH human genome diversity cell line panel (CEPH-HGDP) of 51 globally distributed populations was used to analyze patterns of variability in 20 core human identification STRs. The markers typed comprised the 15 STRs of Identifiler, one of the most widely used forensic STR multiplexes, plus five recently introduced European Standard Set (ESS) STRs: D1S1656, D2S441, D10S1248, D12S391 and D22S1045. From the genotypes obtained for the ESS STRs we identified rare, intermediate or off-ladder alleles that had not been previously reported for these loci. Examples of novel ESS STR alleles found were characterized by sequence analysis. This revealed extensive repeat structure variation in three ESS STRs, with D12S391 showing particularly high variability for tandem runs of AGAT and AGAC repeat units. The global geographic distribution of the CEPH panel samples gave an opportunity to study in detail the extent of substructure shown by the 20 STRs amongst populations and between their parent population groups. An assessment was made of the forensic informativeness of the new ESS STRs compared to the loci they will replace: CSF1PO, D5S818, D7S820, D13S317 and TPOX, with results showing a clear enhancement of discrimination power using multiplexes that genotype the new ESS loci. We also measured the ability of Identifiler and ESS STRs to infer the ancestry of the CEPH-HGDP samples and demonstrate that forensic STRs in large multiplexes have the potential to differentiate the major population groups but only with sufficient reliability when used with other ancestry-informative markers such as single nucleotide polymorphisms. Finally we checked for possible association by linkage between the two ESS multiplex STRs closely positioned on chromosome-12: vWA and D12S391 by examining paired genotypes from the complete CEPH data set.     

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.     

Population data for 11 STR loci in northeast China Han

Allele frequencies for the nine tetrameric short tandem repeats (STR) loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, and D7S820 (AmpFlSTR Profiler Plus PCR amplification kit, PE Applied Biosystems) and two pentameric STR loci Penta D and Penta E (PowerPlex 16 system, Promega Corporation) were determined in a population sample of unrelated China Han.     

New alleles and mutational events at 14 STR loci from different German populations

The molecular origin of DNA mutations and the mutation rates were analyzed at 14 short tandem repeat (STR) loci with samples from trio cases derived from 10 different German population samples. STR loci comprised of D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D19S246, D20S480, D21S226, and D22S689. In a total of 488 meioses, 16 isolated genetic inconsistencies in 8 different STRs were observed, whereas no mutations were found at the other loci. The data of five mutations suggested the presence of silent or null alleles due to sequence variation in primer binding site. This could be confirmed for four suspected cases by the use of alternative primer sets and by DNA sequence analyses. Furthermore, this study revealed nine new allelic variants at five different loci.     

Validation of nine non-CODIS STR loci for forensic use in a population from Central Poland

The D7S1517, D3S1744, D12S391, D2S1360, D6S474, D8S1132, D5S2500, D10S2325 and D4S236613 are STR loci potentially useful for forensic purposes whose analysis has recently become facilitated by availability of a commercial kit. The purpose of the study was to evaluate the usefulness of these loci for forensic identification in a population of Central Poland. The distribution of alleles of the nine STRs was determined in sample of 353 unrelated individuals born in Central Poland and indices of forensic informativeness were calculated. The studied loci were highly informative and did not show departures from Hardy-Weinberg equilibrium. For the loci located on the same chromosomes (D2S1360, D3S1744 D4S2366, D5S2500, D7S1517, D8S1132, D12S391) as other loci commonly used for identification purposes (TPOX, D2S1338, D3S1358, FGA, D5S818, D7S820, D8S1179 and D12S391) appropriate pairwise analysis of linkage disequilibrium was performed. In all cases no statistically significant deviation from independence was found. We conclude that the studied STRs are informative and, when necessary, can be used to extend the results obtained with other STRs commonly analyzed for identification purposes, in particular the CODIS set.     

Population data of nine miniSTR loci in Koreans

For highly degraded DNA samples of forensic casework, new miniSTR systems have been developed to supplement the current STR systems. In the present study, nine miniSTR loci were analyzed in 300 unrelated Koreans using three multiplex PCR systems (multiplex I: D10S1248, D14S1434 and D22S1045; multiplex II: D1S1677, D2S441 and D4S2364; and multiplex III: D3S3053, D6S474 and D20S482), and allele frequencies and forensic parameters were calculated. These data demonstrated that D10S1248, D2S441, D22S1045, D14S1434, and D6S474 are as highly informative as the CODIS STRs suggesting that the miniSTRs could be useful for forensic analysis of degraded DNA.     

Data for 10 autosomal STR markers in South Tunisian population

Allele frequencies, together with some parameters of forensic interest for 10 STRs (D3S1358, vWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA) were estimated from 201 unrelated individuals originating from southern Tunisia. Significant deviation from Hardy-Weinberg equilibrium was observed for only one marker. Comparative analyses between our population data and other populations showed that only markers D3S158, vWA and FGA were homogenous among populations. The combination of these 10 STR loci provide a powerful tool for forensic identification in Tunisian population.     

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).     

中国东部蒙古族人群15个STR基因座多态性研究

目的调查15个STR基因座在中国东部蒙古族人群中的基因频率分布。方法应用四色荧光标记引物复合扩增技术,对105名东部蒙古族无关个的血样15个STR基因座进行多态性研究。结果在东部蒙古族人群中15个STR基因座偶合率在0.0084～0.2169之间,个体识别概率(DP)在0.7831～0.9916之间,杂合度在0.5619～0.9231之间,三联非父排除率(PE)在0.4490～0.8444之间,多态性信息总量(PIC)在0.5438～0.9178之间,15个STR基因座总TDP值为0.9999999999998,所有基因座经χ2检验符合Hard-Weinberg平衡。结论上述15个STR基因座在东部蒙古族人群中等位基因分布较好,个体识别率高,适合法医个体识别和亲子鉴定。     

Allele frequencies for nine STR loci in a Korean ethnic group from northeast China

Allele frequencies for the nine tetrameric short tandem repeats (STR) loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 (AmpFlSTR) Profiler Plus PCR Amplification kit, PE Applied Biosystems) were determined in 109 unrelated Korean ethnic group individuals from northeast China.     

Development and validation of a next generation STR ESS-pentaplex

We constructed a simple STR pentaplex of new loci recommended as next generation markers for the European Standard Set (ESS) comprising normal-amplicon STRs: D12S391 and D1S1656, plus mini-amplicon STRs: D2S441, D10S1248 and D22S1045. Validation of the pentaplex included evaluation of its ability to amplify DNA from a variety of degraded forensic casework samples. Although the ESS-pentaplex was designed in the first instance to generate allele frequency data to supplement existing databases of established STRs, the multiplex proved to be a valuable tool for the analysis of challenging DNA when certain markers of Identifiler or MiniFiler occasionally failed.     

Y chromosomal short tandem repeat (STR) loci in a representative group of males living in South Württemberg: a database for application in forensic medicine

In this study, we resolved the allelic distribution of three Y chromosomal short tandem repeats (STRs), DYS19 (n=218), DYS390 (n=257) and DYS393 (n=215), in a population study of 257 unrelated men living in the area of South Wüerttemberg/Hohenzollern. In DYS19 and in DYS393, five different alleles were discovered, and in DYS390, six different alleles. Forty-nine different haplotypes were found in 202 unrelated male individuals. By investigating each of the three STR systems separately, the most powerful results were found in DYS390, with a PE (power of exclusion) of 0.74, followed by DYS19 (PE: 0.65) and DYS393 (PE: 0.47). Using a combination of two systems (n=202), the PEs ranged from 0.79 (DYS19 and DYS393) to 0.89 (DYS19 and DYS390). The combination of all three STR systems revealed a PE of 0.93.     

Population data on 15 autosomal STRs in a sample from East Timor

Allele frequencies for the fifteen STRs included in the AmpF/STR Identifiler (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPO and VWA) were estimated from a sample of 186 unrelated individuals from East Timor. No deviations from Hardy-Weinberg equilibrium were observed (only after applying the Bonferroni correction in the cases of D2S1338, TPO and D5S818). Genetic parameters of forensic interest were calculated and comparison with geographically nearby populations was performed.     

STR data (AmpFlSTR profiler plus) from north Portugal

Allele frequencies for the nine STRs included in the AmpFlSTR Profiler Plus kit (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) were estimated from a sample of 365-427 unrelated individuals born in north Portugal.     

Autosomal STR data on the enigmatic Andaman Islanders

We have analyzed nine autosomal STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, and D7S820) in 97 samples of enigmatic Andaman islanders including: 15 Great Andamanese, 46 Onge and 36 Nicobarese. Data was compared with the available data on Indian and South East Asian populations. Heterozygosity (H), power of discrimination (PD), probability exclusion (PE), typical paternity index (TPI), polymorphism information content (PIC), AMOVA and Arlequin analysis were carried out. Average heterozygosity observed was high and almost equal in all the populations. Similarly, PD, PE, TPI and PIC have been almost equal in all the populations.     

STR data for the AmpFlSTR Profiler Plus loci from Greece

Allele frequencies for the nine STRs included in the AmpFlSTR Profiler Plus kit (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) were estimated from a sample of 143 unrelated individuals living in different regions of Greece.     

北京汉族群体9个STR位点的频率分布及法医学应用

提供北京汉族群体9个STR基因座的频率分布资料，了解其在法医学中的应用价值。应用PCR技术对9个STR基因座分3组进行复合扩增，经PAG电泳分离、银染，扫描仪扫描，计算机判读并保存结果，对北京地区汉族无关个体9个基因座的基因频率分布进行调查。结果显示，上述9个基因座的杂合度为0．6419～0．8092，多态性信息总量为0．9999，鉴别机率为0．9999，匹配机率为2．0×10-9和非父排除率为0．9985。STR3组9个基因座的综合检验可应用于法医学个体识别和亲子鉴定，并达到同一认定的标准。     

Evaluation of population variation at 17 autosomal STR and 16 Y-STR haplotype loci in Croatians

Seventeen autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, Penta E and Penta D) and 16 Y-STR haplotype loci (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were analyzed in the sample of 200 unrelated Croatians. The agreement with HWE was confirmed for all autosomal STR loci. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 17 autosomal STR loci were 0.999999999999999999682299331476 and 0.99999995, respectively. Penta E proved to be the most informative autosomal STR locus. Among 200 Croatian males, 197 Y-STR haplotypes were identified and haplotype diversity was estimated at 0.9998 ± 0.0005.