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     

Spanish population data on the four STR loci D8S1179, D16S539, D18S51 and D21S11

Population data were generated for four tetrameric short tandem repeat loci systems (D8S1179, D16S539, D18S51 and D21S11) for a Spanish Caucasian population sample (n = 218–219 individuals) using PCR. All loci were highly polymorphic, 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: 5 October 1998 / Received in revised form: 8 December 1998     

Fluorescence-based amplification of the STR loci D18S535, D1S1656 and D12S391 in a population sample from Aragon (North Spain)

Population data were generated for the STR loci D18S535, D1S1656 and D12S391 in a population sample of unrelated healthy individuals born and living in Aragon (North Spain). The three 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 valuable polymorphisms for forensic analyses. Received: 28 January 1999 / Received in revised form: 15 March 1999     

Tibetan population data on the PCR-typed loci D16S539, D7S820, D13S317, HUMF13A01, FESFPS, vWA, HUMTH01, TPOX and CSF1PO

Frequency data for nine tetrameric short tandem repeat loci (D16S539, D7S820, D13S317, HUMF13A01, FESFPS, vWA, HUMTH01, TPOX and CSF1PO) were investigated in a population sample of 107 unrelated Tibetan individuals by using a multiplex polymerase chain reaction (PCR), followed by 4% polyacrylamide gel electrophoresis (PAGE) and silver staining. All loci met the Hardy-Weinberg expectations. The forensically relevant parameters were calculated. This is the first time that Chinese Tibetan population data on DNA loci have been reported that are of forensic importance. Received: 8 February 2000 / Accepted: 7 November 2000     

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     

Gabon black population data on the ten short tandem repeat loci D3S1358, VWA,D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA

Allele frequencies for ten short tandem repeat (STR) loci D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA were determined in a Black African sample population from Gabon. All loci were highly polymorphic and except for TH01, D21S11 and D16S539, all met Hardy-Weinberg expectations. There was little evidence of association of alleles between the loci in this database. The combined power of exclusion for the ten STR loci was 0.999981. While significant differences between the Gabon population and the Austrian Caucasian population were found at all loci, significant differences were found between the Gabon population and Zimbabweans only for D3S1358 and between the Gabon population and African Americans only for TH01 and D8S1179. Received: 14 March 2001 / Accepted: 15 May 2001     

Polymarker, HLA-DQA1 and D1S80 allele data in a Zimbabwean Black sample population

Allele frequencies for the seven PCR-based loci (LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80) were determined in a Black African population from Zimbabwe. All loci are highly polymorphic and meet Hardy-Weinberg expectations. An interclass correlation analysis detected only two significant departures from independence out of 21 pair-wise comparisons of the 7 loci. The Black African allele frequency data are similar to African American data at four of the seven PCR-based loci. Received: 20 February 1999 / Received in revised form: 31 August 1999     

Catalonian population study of the tetranucleotide repeat loci D3S1358, D8S1179, D18S51 and D19S253

Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n = 201), 10 alleles for D8S1179 (n = 198), 13 alleles for D18S51 (n = 197) and 11 alleles for D19S253 (n = 201). No deviation from Hardy-Weinberg equilibrium was found. Complete and relative uniformity in Caucasoid populations has been observed for D18S51 and D8S1179 respectively. Pronounced differences were found between different ethnic groups for both systems. Catalonia and Portugal do not differ for D3S1358 locus. Multiplex PCR amplifications of three loci (D3S1358, D18S51 and D19S253) without overlapping fragment size ranges could be interesting for monochrome automated laser fluorescence devices. Received: 15 January 1998 / Received in revised form: 20 April 1998     

Population data on the seven short tandem repeat loci D4S2366, D6S474, D14S608, D19S246, D20S480, D21S226 and D22S689 in a German population

Allele frequencies for the autosomal tetranucleotide short tandem repeat loci D4S2366, D6S474, D14S608, D19S246, D20S480, D21S226 and D22S689 were investigated in a sample of 189 unrelated German individuals using a multiplex polymerase chain reaction approach. The loci showed no significant deviations from Hardy-Weinberg equilibrium except for D14S608. All genotyped alleles were cloned and sequenced, and an allelic nomenclature consistent with the ISFH recommendations was defined.     

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     

Analysis of eight STR loci in two Hungarian populations

A multiplex reaction for the eight STR loci D3S1358, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 was used to generate allele frequency databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. During the analysis two intermediate-sized alleles and a sequence variant allele were observed at the D7S820 locus. All three types of allelic variants were found to have modifications in the same block of a (T)₉ stretch located within the 3′ flanking region of each allele, which may indicate a possible higher mutation rate of this (T)₉ block. For the loci D3S1358 and D7S820 the Romany population database showed departures from Hardy-Weinberg equilibrium. The forensic efficiency values for the Romany population were slightly different from those found in the Hungarian Caucasian population. Comparing the allele frequency values by G-statistic, calculating the F_ST indices and with the pair-wise comparisons of inter-population variance, the two Hungarian populations could be distinguished using data from the eight STR loci. Received: 18 May 1999 / Received in revised form: 26 August 1999     

Genetic data obtained for two Chinese Han populations with a quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT)

DNA typing of four tetrameric repeat loci (HUMVWA, HUMTH01, D21S11 and HPRT) was carried out in a Chinese Han population from Shanghai (East China) and one from Guangzhou (South-East China) using a quadruplex PCR amplification and detection of the fluorescent-labeled alleles on the ALF DNA sequencer. All loci were in accordance with Hardy-Weinberg equilibrium except for D21S11 in the Guangzhou population. A test for population differentiation showed no statistical difference in the allele frequency distribution between the two populations. Comparison of the allele frequency data with other Chinese Han populations from North and South-West China for the STR loci HUMVWA and HUMTH01 revealed heterogeneity between Northern Chinese Han and Southern Chinese Han, which is in accordance with previous studies on the basis of protein markers. Received: 22 December 1997 / Accepted: 23 April 1998     

Allele frequency distributions of the polymorphic STR loci HUMVWA, HUMFES, HUMF13A01 and the VNTR D1S80 in a Filipino population from Metro Manila

Allele frequency distributions at the short tandem repeat (STR) loci HUMVWA, HUMFES, HUMF13A01 and of the variable number of tandem repeat (VNTR) locus D1S80 were determined in a Filipino population from Metro Manila (103 individuals) by use of the polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (PAGE). The exact test demonstrated that all four loci had no deviations from Hardy-Weinberg equilibrium (HWE) with the only reservation that the exact test p-value for F13A01 is weak. The discriminating power is 0.82 for D1S80, and the expected exclusion chance is 0.85 for F13A01, 0.83 for FES, and 0.93 for VWA. The observed heterozygosity rates are 0.63 for D1S80, 0.66 for F13A01, 0.67 for FES, and 0.80 for VWA. The exact test for independance between all loci gave a p-value of 0.0195. This is the first time that Filipino population data of DNA loci of forensic importance are reported. Received: 7 July 1997 / Received in revised form: 18 September 1997     

Population genetics of six miniSTR loci (D1S1677, D2S441, D4S2364, D10S1248, D14S1434, D22S1045) in a Polish population

Allele frequency data and forensic efficiency parameters for six miniSTR loci: D1S1677, D2S441, D4S2364 (NC01), D10S1248, D14S1434, D22S1045 (NC02) were estimated from a sample of 116 unrelated individuals from Poland. No significant deviations from Hardy–Weinberg equilibrium expectations were detected. The combined power of discrimination for the six studied loci was 0.999995383.     

Frequencies of the five PCR-based genetic markers LDLR, GYPA, HBGG, D7S8 and GC in the population of Asturias (North Spain)

Allele and genotype frequencies of the loci LDLR, GYPA, HBGG, D7S8 and GC (PM loci) were investigated in a population sample of 215 unrelated individuals from Asturias (North Spain). Multiplex amplification and simultaneous typing of the five loci was carried out using the polymarker PCR amplification and typing kit. All loci met Hardy-Weinberg expectations. The Asturian sample does not differ significantly from other Caucasians, but significant differences were observed between this population and SW Hispanic, Afro-american and Korean populations. Received: 30 September 1996 / Received in revised form: 12 November 1996     

The Bubi population of Equatorial Guinea characterised by HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51 and D19S253 STR polymorphisms

Allele frequencies for eight STR loci (HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51, D19S253) have been analysed in the Bubi population of Bioko Island, Equatorial Guinea. For all loci, no deviation from Hardy-Weinberg equilibrium was found. Data obtained were compared with that of Caucasian and African populations. Significant differences were found for all systems between all the black populations compared and the Caucasoid population. Similarities were observed between the Bubi and Zimbabweans, and also with African American populations. Also, more affinities were observed between Zimbabweans and Ugandans and Ovambos than between these groups and the Bubi population. From these comparisons it is suggested that in Africa, as in other continents, there is a certain genetic heterogeneity. Received: 9 May 2000 / Accepted: 19 September 2000     

Population genetics of ten STR loci (AmpFℓSTR SGM plus) in Austria

A population study on the ten short tandem repeat (STR) loci D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA was performed on 204 unrelated Austrian Caucasians. The DNA was amplified by multiplex PCR using the AmpFℓSTR SGM plus kit. All loci met Hardy-Weinberg expectations. The combined power of exclusion for the ten STR loci was 0.999976. The results show that these loci are very useful for forensic purposes. Received: 28 February 2000 / Accepted: 22 May 2000     

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

Summary We have used PCR amplification to analyse the allele frequency, distribution and heterozygosity of 5 microsatellite markers (D1S117, D6S89, D11S35, APOC2, and D21S168), in a sample of 100 unrelated Spanish individuals. The loci tested exhibit wide allelic variability having 7-17 alleles, PIC (polymorphic information content) between 0.79 and 0.86, and heterozygosity between 0.81 and 0.86. D1S117 and D21S168 have unimodal distribution, APOC2 has 4 common alleles which account for 71% of the total variation, D11S35 has a bimodal distribution and D6S89 is trimodal. The allelic distribution observed for each locus is in agreement with slippage and mispairing as the main mechanisms involved in the evolution of microsatellite alleles. Multiplex amplification of loci D6S89 and APOC2 was possible due to their non-overlapping allele sizes. The rapidity with which microsatellites can be analysed, and the accurate determination of alleles, make these markers very powerful tools for genetic typing. The information obtained for loci D1S117, D6S89, D11S35, APOC2, and D21S168, provides a basis for their use for DNA typing and paternity analysis in the Spanish population.     

Forensic validation of a multiplex containing nine STRs – population genetics in Northern Poland

This paper presents the allele frequency distributions for the nine loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) present in the commercially available Profiler Plus kit. DNA samples of 202 individuals from Northern Poland were amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. All loci met the Hardy-Weinberg equilibrium conditions. The calculated probability of identity was 2.26 × 10^–11 giving an average probability of identity of 1 in 44 billion. Considerable improvement of analysis precision was observed after substituting the GeneScan 500 for the fluorescent ladder 60–400 bp. The influence of DNA concentration on stutter and artefact formation and the ratio of heterozygote alleles was analysed. Received: 15 September 1999 / Accepted: 14 January 2000     

Turkish population data on the HLA-DQα, LDLR, GYPA, HBGG, D7S8, and GC loci

We have determined the allele and genotype frequencies of six PCR-based genetic markers HLA-DQα, LDLR, GYPA, HBGG, D7S8 and GC in the Turkish population (n = 361 for HLA-DQα, and n = 260 for PM). All loci meet Hardy-Weinberg expectations. The frequency data can be used in forensic analyses in the Turkish population. Received: 21 March 1996 / Received in revised form: 18 March 1997