Population genetic data of the AmpFℓSTR® Identifiler® Plus and PowerPlex® 16 HS STR loci in four Canadian populations

Allele frequencies and forensically relevant population statistics were estimated for the short tandem repeat (STR) loci of the AmpF?STR® Identifiler® Plus and PowerPlex® 16 HS amplification kits, including D2S1338, D19S433, Penta D, and Penta E, for three First Nations Aboriginal populations and for Caucasians in Canada. The cumulative power of discrimination was ≥0.999999999999984 and the cumulative power of exclusion was ≥0.999929363 for both amplification systems in all populations. No significant departure from Hardy–Weinberg equilibrium was detected for D2S1338, D19S433, Penta D, and Penta E or the 13 Combined DNA Index System core STR loci after correction for multiple testing. Significant genetic diversity was observed between these four populations. Comparison with published frequency data for other populations is also presented.     

Fifteen non-CODIS autosomal short tandem repeat loci multiplex data from nine population groups living in Taiwan

The analysis of autosomal short tandem repeat (STR) loci is a powerful tool in forensic genetics. We developed a multiplex system in which 15 non-Combined DNA Index System autosomal STRs (D3S1744, D4S2366, D8S1110, D10S2325, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 1,098 unrelated subjects of nine population groups living in Taiwan, including Taiwanese Han, indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, Thais, Vietnamese, Indonesians, and Caucasians, were collected and analyzed using this system. The distributions of the allelic frequencies and the forensic parameters of each population group were presented. The combined discrimination power and the combined power of exclusion were high in all population groups tested in this study. A multidimensional scaling plot of these nine population groups based on the Reynolds' genetic distances calculated from 15 autosomal STRs was constructed, and the genetic substructure in this area was presented. In conclusion, this 15 autosomal STR multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing in different populations.     

Population genetic data for 17 STR markers from Lebanon

Seventeen autosomal STRs were analyzed (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, Penta D, and Penta E) in the Lebanese population. A total of 192 unrelated individuals were genotyped for the 15 autosomal STRs in the Promega PowerPlex 16 STR kit. An additional 275 unrelated individuals were genotyped for the Applied Biosystems AmpFlSTR Identifiler and SGM + STR kits. Allele frequencies for the shared CODIS 13 loci among the three STR kits tested were not significantly different among individuals within the Lebanese population. Forensic and population genetic parameters for the 17 loci were calculated. We also compared the allele frequencies from this population with other populations in the same geographic vicinity.     

Population genetic data on 15 autosomal STRs in a Pakistani population sample

Allele frequencies for the 15 STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX and FGA) were investigated using PowerPlex^®16 amplification kit in a sample of 328 unrelated individuals from Islamic Republic of Pakistan. The allelic distributions were in Hardy Weinberg equilibrium for all loci except for the loci FGA, TPX and THO1. Various forensic indices were calculated and a comparison was made with geographically nearby populations.     

Genetic analysis of Kashmiri Muslim population living in Pakistan

The PowerPlex 16 amplification kit was used for the analysis of allele frequencies for the 15 STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA) in unrelated, autochthonous healthy adults from Kashmiri refugee population in Pakistani Punjab (n=125). The allelic distributions were in Hardy-Weinberg equilibrium in all of loci examined except for the vWA locus. Forensic parameters were calculated and a comparison was made with geographically nearby populations.     

Genetic polymorphism studies on 22 autosomal STR loci of the PowerPlex Fusion System in Bangladeshi population

Genetic polymorphism of 22 autosomal STR loci included in PowerPlex® Fusion System (D3S1358, D1S1656, D2S441, D10S1248, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA and D22S1045) was studied in 188 unrelated Bangladeshi Bengali individuals. Allele frequencies and forensic efficiency parameters such as, the power of discrimination (PD), observed and expected heterozygosity (Ho & He), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE) and typical paternity index was calculated for the loci. The combined PM and PE for all 22 STR loci were calculated to be 5.29 × 10⁻²⁷ and 0.99999999945 respectively. The dataset indicated the usefulness of these loci in personal identification, parentage testing and complex kinship analysis in Bangladeshi population. A neighbor-joining tree was constructed based on pair-wise Nei’s genetic distance by comparing allele frequency data for the 22 loci with six other populations. The analysis showed that Bangladeshi population lies closer to a clade consisting Japan, the Philippines and East Timot populations.     

Fourteen non-CODIS autosomal short tandem repeat loci multiplex data from Taiwanese

Interest in the development of polymorphic short tandem repeat (STR) markers unlinked to the CODIS loci is growing among forensic practitioners. We developed a multiplex system in which14 autosomal STR (D3S1744, D4S2366, D8S1110, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 572 unrelated Taiwanese Han subjects were analyzed using this 14 STR multiplex system. Thirty parent–child pairs of parentage testing cases with a combined paternity index (CPI) below 1,000 and 32 parent–child pairs with single-step mutations found in AmpFℓSTR Identifiler loci were also recruited for validation of the newly developed system. DNA sequencing was performed for novel STRs and novel alleles found in these subjects. The distributions of allelic frequencies for these autosomal STRs and sequence data, allele nomenclature for the STRs, and forensic parameters are presented. The discrimination power in our multiplex loci ranged from 0.6858 (D18S536) to 0.9168 (Penta E), with a combined discrimination power of 0.999999999. It provides additional power to distinguish the possible single-step mutations in parent–child pairs and improves the ability to prove parentage by increasing the CPI. The combined power of exclusion of these 14 loci in Taiwanese Han in this study was 0.9999995913. In conclusion, this 14-autosomal STRs multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing.     

Assessment of phylogenetic structure of Berber-speaking population of Azrou using 15 STRs of Identifiler kit

Allele frequencies for 15 STR autosomal loci of Identifiler kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) in the Moroccan population of Berber-speaking of Azrou, were assessed from a sample of 201 unrelated individuals. Markers D18S51, D2S1338, FGA and D21S11 present the highest power of discrimination (PD) values while D21S11 was the most polymorphic locus in the studied population. The phylogenetic tree established among worldwide populations, shows that Berber-speaking population of Azrou was so close to the Berber-speaking population of Asni but also to the Arab-speaking population of southern Morocco. Nevertheless, a significant distance was observed between populations of Azrou and Bouhria even they share the same dialect (Amazigh) and belong to the same geographical area (Morocco). The 15 STR loci studied appear to be highly discriminating, thus providing a powerful tool for forensic applications, paternity investigation, individual identification and anthropological studies.     

Allele frequency data for 17 short tandem repeats in a Czech population sample

Allele frequencies for 17 short tandem repeats (STRs) autosomal loci (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, PentaD, PentaE, TH01, TPOX, vWA) were studied in an extensive sample (max. N = 1411) of unrelated individuals originating from the Czech Republic. Population and forensic parameters were estimated. Except for FGA and Penta E loci, no deviations from the Hardy–Weinberg equilibrium were detected. A comparative analysis with published data revealed significant differences in allele frequencies for some loci from the Polish population and three Hungarian populations (Ashkenazim population and Romany populations from Debrecen and Baranya County, respectively). A combination of these 17 STR loci provides a powerful tool for forensic identification in the native Czech population.     

Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample

The allelic frequency distribution and statistical genetic parameters of forensic relevance for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, Penta E, Penta D, vWA, TPOX, D18S51, D5S818 and FGA) in a population sample of 336 non-related individuals residing in the Western part of Romania are presented.     

Massively parallel sequencing data of 31 autosomal STR loci obtained using the Precision ID GlobalFiler NGS STR Panel v2 for 82 Japanese population samples

Allele frequencies for 31 autosomal short tandem repeat (STR) loci (CSF1PO, D10S1248, D12ATA63, D12S391, D13S317, D14S1434, D16S539, D18S51, D19S433, D1S1656, D1S1677, D21S11, D22S1045, D2S1338, D2S1776, D2S441, D3S1358, D3S4529, D4S2408, D5S2800, D5S818, D6S1043, D6S474, D7S820, D8S1179, FGA, Penta D, Penta E, TH01, TPOX, and vWA) were obtained using Precision ID GlobalFiler NGS STR Panel v2 from 82 unrelated individuals sampled from the Japanese population. Autosomal STR alleles designated by NGS and conventional capillary electrophoresis were found to be concordant except at D2S441 allele 9.     

STR allele sequence variation: Current knowledge and future issues

This article reviews what is currently known about short tandem repeat (STR) allelic sequence variation in and around the twenty-four loci most commonly used throughout the world to perform forensic DNA investigations. These STR loci include D1S1656, TPOX, D2S441, D2S1338, D3S1358, FGA, CSF1PO, D5S818, SE33, D6S1043, D7S820, D8S1179, D10S1248, TH01, vWA, D12S391, D13S317, Penta E, D16S539, D18S51, D19S433, D21S11, Penta D, and D22S1045. All known reported variant alleles are compiled along with genomic information available from GenBank, dbSNP, and the 1000 Genomes Project. Supplementary files are included which provide annotated reference sequences for each STR locus, characterize genomic variation around the STR repeat region, and compare alleles present in currently available STR kit allelic ladders. Looking to the future, STR allele nomenclature options are discussed as they relate to next generation sequencing efforts underway.     

Bosnian population data for the 15 STR loci in the Power Plex 16 kit

The PowerPlex 16 amplification kit was used for the analysis of allele frequencies for the 15 STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX and FGA) in unrelated, autochthonous healthy adults from Bosnia (n=123 for TH01, Penta E, D16S539, CSF1PO, Penta D and TPOX, n=210 for D3S1358, D21S11, D18S51, D5S818, D13S317, D7S820, VWA, D8S1179 and FGA). The agreement with HWE was confirmed for all loci with the exception of Penta D (based on the ²-test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 studied loci were 0.999999999999999997 and 0.999999, respectively.     

Population genetics analysis of 38 STR loci in the She population from Fujian Province of China

A total of 38 autosomal Short Tandem Repeat (STR) loci (i.e., D5S818, D21S11, D7S820, CSF1P0, D2S1338, D3S1358, vWA, D8S1179, D16S539, Penta E, TPOX, TH01, D19S433, D18S51, FGA, D6S1043, D13S317, D12S391, D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435, D5S2500) were analyzed in the She population from Fujian Province of China with 154 unrelated individuals. The results show these 38 STR loci have high or medium power of discrimination and probabilities of exclusion. The Hardy–Weinberg Equilibrium of each locus and Linkage Disequilibrium among these loci were tested. The genetic distances (i.e., Fst) among the She population and other Chinese populations were estimated. In conclusion, these loci are very useful for forensic applications, especially kinship analysis, in the She population of this region.     

Polymorphism analysis of 15 STR loci in a large sample of the Han population in southern China

We have conducted genotyping experiments on 15 STR loci in over 5000 unrelated individuals of the Han population in Southern China. The loci are D31358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA. Our statistic analysis indicates that the 15 STR loci conform to the Hardy–Weinberg's equilibrium (p > 0.05). We also report here the heterozygosity, matching probability, power of discrimination, probability of exclusion, polymorphism information content and typical paternity index for each locus. The results indicate that these loci are highly polymorphic in the Han population in Southern China.     

Genetic variation of 15 autosomal STR loci in a Somali population

Allele frequencies for 15 autosomal STR loci included in the AmpFℓSTR Identifiler kit (CSF1PO, D13S317, D16S539, D18S51, D19S433, D21S11, D2S1338, D3S1358, D5S818, D7S820, D8S1179, FGA, TH01, TPOX, VWA) were obtained from the analysis of 404 individuals with Somali origin. The overall match probability for the 15 studied loci was 1 in 1.18 × 10¹⁷ and the combined power of exclusion was 0.999997676. Deviation from Hardy–Weinberg equilibrium was observed for locus D2S1338 after correction for multiple testing. When comparing allele frequencies with five other African populations (Karamoja (Uganda), Mozambique, Tanzania and two other Somali population sample sets), only the Somali populations did not show significant differences for any of the tested loci.     

Massively parallel sequence data of 31 autosomal STR loci from 496 Spanish individuals revealed concordance with CE-STR technology and enhanced discrimination power

This study reports Short Tandem Repeat (STR) sequence-based allele data from 496 Spanish individuals across 31 autosomal STR (auSTR) loci included in the Precision ID GlobalFiler™ NGS STR Panel v2: D12S391, D13S317, D8S1179, D21S11, D3S1358, D5S818, D1S1656, D2S1338, vWA, D2S441, D5S2800, D7S820, D16S539, D6S474, D12ATA63, D4S2408, D6S1043, D19S433, D14S1434, CSF1PO, D10S1248, D18S51, D1S1677, D22S1045, D2S1776, D3S4529, FGA, Penta D, Penta E, TH01 and TPOX. The sequence of each allele was aligned to the reference sequence GRCh37 (hg19) and formatted according to the guidance of the International Society for Forensic Genetics. A subset of 221 samples was evaluated for testing concordance with allele calls derived from CE-based analysis using PowerPlex Fusion 6C, and there was 99.95% allele concordance. Twenty-five out of 31 auSTR loci showed an increased number of alleles due to repeat region sequence variation and/or single nucleotide polymorphisms (SNP) residing in the flanking regions. A total of 18 loci showed increased observed heterozygosity due to sequence variation; the loci exhibiting the greatest increase were: D13S317 (12% points), D5S818 (10% points), D8S1179 (7% points), D3S1358 (7% points), and D21S11 (6% points). The combined match probability decreased from 2.022E-24 (length-based data) to 1.042E-27 (sequence-based data) for the 20 CODIS core STR loci. The combined match probability (sequence-based data) for the 31 STR loci studied was 4.777E-40. The combined typical paternity index increased from 1.118E + 12 to 8.179E + 13 using length and sequence-based data, respectively. This Spanish population study performed in the framework of the EU-funded DNASEQEX project is expected to provide STR sequence-based allele frequencies for forensic casework and support implementation of massively parallel sequencing (MPS) technology in forensic laboratories.     

Jordanian population data on five STR forensic loci: D16S539, TPOX, CSF1PO, Penta D, and Penta E

The allele distributions at five STR loci, D16S539, TPOX, CSF1PO, Penta D, and Penta E have been determined. None of the five loci were found to deviate from Hardy-Weinberg expectations according to the results of the G (homogeneity) test.     

Genetic variability of 15 autosomal STR loci in Russian populations

Allele frequencies for 15 STRs (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, THO1, TPOX, and vWA) in the PowerPlex 16 System (Promega Corporation) were assessed in 386 individuals from five Russian urban populations. No significant between-population differences in frequencies and molecular variance of 15 microsatellites were revealed. For all 15 loci, the combined matching probability is 3.19 × 10^?18 and the power of exclusion is 99.99989%.     

Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and Northern Africa

The 13 short tandem repeat (STR) loci D3S1358, vWA, FGA, D16S539, TH01, TPOX, CSF1PO, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 as well as the amelogenin locus, contained in AmpFlSTR Profiler Plus and/or AmpFlSTR Cofiler and/or AmpFlSTR Green I PCR amplification kits, were studied in four populations from the Iberian Peninsula, Basques, Catalans, Andalusians and Portuguese and two North African populations (Moroccan Arabs and Berbers). The aim of the study was to obtain accurate allele frequency data and other genetic parameters of forensic interest on the main representative human groups living in Iberia and Morocco using an automated method and commercial amplification kits. Received: 15 March 1999 / Received in revised form: 25 June 1999