Population genetics of the STRs vWA, D3S1358 and FGA in the Pomerania-Kujawy region of Poland

This paper presents the results of a Polish population study (n = 210) for the three STR loci vWA, D3S1358 and FGA analysed using the multiplex PCR system AmpflSTR Blue. The allele distributions were in accordance with Hardy-Weinberg expectations. The combined mean exclusion chance, mean paternity index and power of discrimination for the three loci were MEC = 0.96055, MPI = 127.1295 and PD = 0.99986. This demonstrates that these systems are valuable tools for forensic identification and paternity testing. Received: 24 August 1998 / Received in revised form: 19 January 1999     

Frequency data on the loci vWA, FES/FPS, F13A01, TH01, TPOX and CSF1P0 in a population from South Poland

Allele and genotype frequencies for six short tandem repeat (STR) loci were determined in a sample of 124 inhabitants from South Poland with commercial PCR-based typing kits. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the six loci was 0.9999982. There was no genotypic disequilibrium between the loci except for vWA and F13A01. The set of PCR loci was validated as useful for paternity testing and individual identification in the Polish population. Received: 2 November 1998 / Received in revised form: 5 March 1999     

A Korean population study of the nine STR loci FGA, VWA, D3S1358, D18S51, D21S11, D8S1179, D7S820, D13S317 and D5S818

DNA typing was performed on 379 randomly selected unrelated Koreans using the nine short tandem repeat loci FGA, VWA, D3S1358, D18S51, D21S11, D8S1179, D7S820, D13S317 and D5S818 present in the AmpFlSTR Profiler Plus PCR amplification kit. Allele frequencies, heterozygosity, power of discrimination, mean exclusion chance, and polymorphism information content of each locus were calculated by statistical analysis. All nine loci were in Hardy-Weinberg equilibrium. The combined discrimination index and the combined mean exclusion chance in Koreans was 2.31 × 10^–12 and 0.99983, respectively. By evaluation of 297 children from 128 families, 2 mutations were found at the FGA locus and 1 each at the D18S51 and D13S317 loci. This study demonstrates that this multiplex system is a useful and convenient tool for forensic identification and parentage testing in Korea. Received: 15 September 1999 / Accepted: 14 January 2000     

Allele frequency distributions of 13 PCR-based systems in a population from North-East Spain

Population data studies were carried out on a Caucasian population from North-East Spain (n = 129– 292 individuals) for 13 PCR-based polymorphic DNA loci: six short tandem repeat loci (HumTH01, HumTPOX, HumCSF1PO, HumF13A01, HumFES/FPS, HumvWFA31), the six PM loci (HLA-DQα, LDLR, GYPA, HBGG, D7S8, GC) and one variable number tandem repeat locus (D1S80).The genotypes distributions were in accordance with Hardy-Weinberg expectations. The combined use of the 13 polymorphic systems provides a high power of discrimination and power of exclusion for use in forensic casework and paternity testing. Received: 18 November 1996 / Received in revised form: 19 February 1997     

Allele frequency distribution at 15 autosomal STR loci in Panggi, Komkar and Padam sub tribes of Adi, a Tibeto-Burman speaking population of Arunachal Pradesh, India

Fifteen autosomal STR loci were analyzed in 223 healthy individuals belonging to three remote, isolated Tibeto-Burman speaking sub tribes namely, Panggi, Komkar and Padam of Adi tribe of Arunachal Pradesh, India. The analyzed markers exhibited a high degree of polymorphism in the studied populations. Statistical parameters of forensic interest; observed heterozygosity, probability of homozygosity, exact test, likelihood ratio test, power of discrimination, power of exclusion, match probability and typical paternity index were determined for all loci. The average heterozygosity values were found to be low in the three populations (Panggi: 0.7747; Komkar: 0.7742 and Padam: 0.7663). The combined power of discrimination and power of exclusion were 0.9999 in the studied populations thereby revealing the high forensic significance of the chosen markers. The study indicates the utility of the tested microsatellite markers in forensic human identification, paternity testing and human population genetic studies.     

Genetic data on 10 autosomal STR loci in the Bangladeshi population

Allele frequencies of 10 autosomal short tandem repeat (STR) loci, D3S1358, vWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA were determined in 211 unrelated Bangladeshi individual using AmpFLSTR SGM Plus PCR Amplification Kit. Statistical parameters of forensic importance, the power of discrimination (PD), observed and expected heterozygosity values (H), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE) and typical paternity index (TPI) were calculated for the loci. These parameters indicated the usefulness of the loci in paternity testing and personal identification in the Bangladeshi population.     

A Spanish population study of the STR loci HumLPL, D5S818, D7S820 and D13S317

Allele and genotype frequencies for four tetrameric short tandem repeat loci were determined in a Spanish population sample (N = 193-225) using PCR. All loci met Hardy-Weinberg expectations and the results demonstrated the assumption of independence of the loci analysed. The allele frequency data can be used in identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Spanish population. Received: 16 December 1997 / Received in revised form: 9 March 1998     

A new pentaplex PCR system for forensic casework analysis

In 1998 the Federal Criminal Police Office of Germany (BKA) established a central genetic database of offenders and suspects to facilitate comparisons with biological samples from future criminal offences. The five obligatory short tandem repeat (STR) loci in this database (TH01, SE33, vWA, FGA and D21S11) were co-amplified in a new PCR pentaplex analysing system together with the sex-specific locus amelogenin. Due to overlapping fragment sizes, amplification products were fluorescent dye-labelled with different colours, separated by electrophoresis and detected directly using the ABI PRISM 310 Genetic Analyzer. Reproducible and reliable results were obtained from as low as 125 pg template DNA, indicating high specificity and sensitivity of the assay. Environmental studies and enzymatic digest with DNase I revealed an excellent stability of the pentaplex system with typeable results even in cases of partially degraded DNA. Complete and reproducible DNA typing was possible in bloodstain mixtures with the minor component as low as 10%. Mean stutter peak intensities were analysed for all loci and ranged from 2.7 ± 0.8% (TH01) to 10.6 ± 1.6% (vWA) of the main signal intensity. Allele frequencies were determined in a North Bavarian population sample (n = 121). The combination of five systems resulted in a mean exclusion chance of 99.86% and a power of discrimination of 99.999996%. No deviation from Hardy-Weinberg equilibrium could be found. Received: 13 December 1999 / Accepted: 12 April 2000     

Forensic evaluation of STR data for the PowerPlex™ 16 System loci in a Bangladeshi population

Allele frequencies of 15 autosomal STR loci included in PowerPlex™ 16 System were determined from a sample of 148 unrelated Bangladeshi individuals. Forensic efficiency parameters such as, the power of discrimination (PD), observed and expected heterozygosity (H), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE), and typical paternity index were calculated for the loci. These parameters indicated the usefulness of the loci in paternity testing and personal identification in the Bangladeshi population.     

Genetic polymorphisms of 20 autosomal STR loci in the Vietnamese population from Yunnan Province,Southwest China

The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated in 522 healthy unrelated Vietnamese from Yunnan, China. All of the loci reached the Hardy–Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.999999999999999999999991 26 and 0.999999975, respectively. Results suggested that the 20 STR loci are highly polymorphic, which is suitable for forensic personal identification and paternity testing.

     

Population genetics of nine short tandem repeat (STR) loci – DNA typing using the AmpFlSTR Profiler PCR amplification kit

Frequency data for nine short tandem repeat (STR) loci were collected from 130 unrelated Caucasians from North Bavaria using the AmpFlSTR Profiler multiplex system. The loci D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820 and the sex test amelogenin were investigated. Allele frequencies, rates of heterozygosity and the discrimination power of the combined systems were calculated by statistical analysis. Except for D5S818 all loci met Hardy-Weinberg expectations. Received: 27 August 1998 / Received in revised form: 28 December 1998     

Automatische Analyse von hoch effizienten STRs

Five efficient STR systems were investigated by automated laser fluorescence analysis on an A.L.F. Express. The system HumACTBP2 and the combinations of the systems HumVWA/FGA and HumTH01/D12S391 in duplex reactions were analysed. DNA samples could be analysed with a high sensitivity (100 pg) and the results were reproducible. No allele drop-out was observed. Using specific allelic ladders, the inter and intra gel deviation was less than 0.5 bp. The allele frequencies, the mean exclusion chance values and the discrimination power for all five systems are shown. The combination of the five systems resulted in a power of discrimination of 99.9999989%.     

Genetic analysis of 20 autosomal STR loci in the Miao ethnic group from Yunnan Province,Southwest China

The genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex^® 21 kit were evaluated from 748 unrelated healthy individuals of the Miao ethnic minority living in the Yunnan province in southwestern China. All of the loci reached Hardy–Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. The genetic relationship between the Miao population and other Chinese populations were also estimated. The combined discrimination power and probability of excluding paternity of the 20 STR loci were 0.999 999 999 999 999 999 999 991 26 and 0.999 999 975, respectively. The results suggested that the 20 STR loci were highly polymorphic, which makes them suitable for forensic personal identification and paternity testing.     

Parentage testing with 14 STR loci and population data for 5 STRs in the Slovenian population

In order to apply a set of 14 short tandem repeat (STR) loci in parentage testing, we performed a population genetic study on a sample of 260 unrelated people from the Slovenian population. Genotypes for the 14 STRs were determined using three multiplex polymerase chain reactions (PCR) and automated fluorescent detection. The allele frequencies of the STR loci D5S818, D13S317, D7S820, D8S1179 and D18S51 showed no deviation from the Hardy-Weinberg equilibrium and agreed well with other Caucasian populations. We resolved a series of 181 parentage disputes of which 29 were exclusions. In all cases, evidence for exclusion was obtained by at least 4 informative STRs out of the 14 loci analysed. The 14 loci combined comprise a highly discriminating test suitable for paternity and identity testing in the Slovenian population, with an average estimated mutation rate of 1.2x10(-3), a combined calculated power of exclusion of 99.99974% and paternity index (PI) value of >10(6) in 72% of the inclusion cases and >10(5) in 91% of the inclusion cases.     

Basque Country autochthonous population data on 7 short tandem repeat loci

Blood samples from 202–208 unrelated Basque Country autochthonous individuals were amplified, typed and their allele frequencies were determined. Results demonstrate the assumption of independence within and between the loci analyzed. Therefore, a Basque population database can be used in identity testing to estimate the frequency of a multiple PCR-based locus DNA profile. Received: 22 September 1997 / Received in revised form: 12 November 1997     

Genetic diversity study on 12 X-STR loci of investigator® Argus X STR kit in Bangladeshi population

The X-chromosome short tandem repeat (STR) loci are of particular interest for solving complex kinship and paternity cases. Here, we report the genetic data from 209 unrelated Bangladeshi individuals (102 males and 107 females) that were genotyped using the 12 X-chromosomal STR markers included in the Investigator® Argus X-12 kit (Qiagen). The 12 X-STR markers are located in four linkage groups (linkage group I: DXS10135, DXS10148, and DXS8378; linkage group II: DXS7132, DXS10079, and DXS10074; linkage group III: DXS10103, HPRTB, and DXS10101; and linkage group IV: DXS10146, DXS10134, and DXS7423). Allelic frequencies of the 12 X-STR loci and haplotype frequencies of the four linkage groups were investigated. No significant difference was observed in the allele frequencies of males and females. Distributions of heterozygosity were observed from 64.5 to 92.5% among the studied 12 X STR loci. DXS10135 and DXS10101 loci were found to be most polymorphic. For all the four linkage groups, the haplotype diversity was found to be greater than 0.986. A total of 95, 73, 66, and 74 haplotypes were observed in linkage groups I, II, III, and IV, respectively. Hardy–Weinberg equilibrium tests showed no significant deviation from expected values for all 12 loci (p > 0.05). The exact test for pairwise linkage disequilibrium for the 12 loci in the male samples did not show any significant linkage disequilibrium except the DXS10103 and DXS10101 loci after the p values were corrected by Bonferroni’s correction for multiple testing (p > 0.05/66). A combined power of discrimination in male and female individuals were 0.999999998159791 and 0.999999999999993, respectively. The combined mean exclusion chance were 0.999997635 in deficiency cases, 0.999999996 in normal trio cases, and 0.999999178 in duo cases. The currently investigated Bangladeshi population showed significant differences when compared with previously reported X-STR data from other 12 populations. The results of the data analysis indicated that all the loci in the Investigator® Argus X 12 kit were fairly informative and might be useful in forensic application and kinship analysis in Bangladeshi population.

     

Swiss population data and forensic efficiency values on 3 tetrameric short tandem repeat loci-HUMTH01, TPOX,and CSFIPO - derived using a STR multiplex system

Allele and genotype frequencies for 3 tetrameric short tandem repeat loci were determined in a Swiss population sample (n = 100) using the GenePrint STR Multiplex System, electrophoresis of the PCR products in DNA sequencing gels and subsequent detection of allelic fragments by silver staining. The loci are HUMTH01, TPOX, and CSFIPO. The observed heterozygosities are 83.0%, 60.0%, and 72.0%, respectively. The discrimination power determined for the individual loci is 0.914, 0.780, and 0.860, respectively, and the combined discrimination power for the triplex is 0.997. All loci meet Hardy-Weinberg expectations and after Bonferroni correction there was no evidence that the population sample deviates from expectations of independence. Moreover, independence of alleles at these STR loci with other PCR-based loci derived from the same Swiss population sample, previously reported, were considered. These loci were DQA1, LDLR, GYPA, HBGG, D7S8, GC and D1S80. Again, after Bonferroni correction there was no evidence that the population sample deviates from expectations of independence among alleles at the 10 different PCR-based loci. Thus, the allelic frequency data can be used in human identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Swiss population.     

Analysis of the STR loci HUMF13A01, HUMFXIIIB,HUMLIPOL, HUMTH01, HUMTPOX and HUMVWFA31 in a Japanese population

Population studies on six short tandem repeat loci, HUMF13A01, HUMFXIIIB, HUMLIPOL, HUMTH01, HUMTPOX and HUMVWFA31 were carried out in a sample of unrelated Japanese individuals (n = 337–545) living in Gifu Prefecture (central region of Japan). Five alleles could be identified for HUMFXIIIB, six for HUMF13A01, HUMLIPOL, HUMTH01 and HUMTPOX, and eight for HUMVWFA31. For all/six loci no deviations from the Hardy-Weinberg equilibrium hypothesis were detected. The mean exclusion chance ranged from 0.22 to 0.60, the power of discrimination from 0.63 to 0.93, and the expected heterozygosity from 0.43 to 0.80. Allele frequency distributions for the loci in the Japanese sample were not similar to those in samples from other racial or ethnic groups except for the Chinese (for HUMTPOX). The results demonstrate that HUMTH01, HUMTPOX and HUMVWFA31 are more useful for forensic investigations in the Japanese population than the other three loci.     

Frequency data for the STR locus ACTBP2 (SE33) in eight populations

Allele frequency data for the STR system ACTBP2 (SE33) were determined in eight populations by denaturing polyacrylamide gel electrophoresis with automated laser-induced fluorescence detection. No significant deviations from Hardy-Weinberg equilibrium were observed. The power of discrimination and the mean exclusion chance ranged from 96.6% to 98.7% and from 76.3% to 88.9%, respectively. These forensic efficiency values stress the importance of ACTBP2 for individualisation purposes. Received: 19 September 2000 / Accepted: 22 December 2000     

Forensic value of nine STR loci in Northern Thai

Nine STR loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, TH01, VWA, TPOX, LPL) were studied in a large Northern Thai population sample. All loci meet Hardy-Weinberg expectations. The combined power of discrimination and exclusion is 0.9999999979 and 0.99798 respectively. Mutation rates for STR loci did not exceed 1-4 per 1000 parent/child pairs as derived from disputed paternity cases. Similar mutation rates were also reported from other populations. No mutations were found for D5S818, D7S820, TH01, and TPOX.