A population study of the STR loci HUMLPL, HUMF13B, and HUMF13A01 in Hungary

Allele frequencies of the three STR systems HUMLPL, HUMF13B, and HUMF13A01 were determined in a Hungarian population sample of 223 unrelated Caucasian individuals. All loci met Hardy-Weinberg expectations and there was no evidence for association of alleles among the three STR loci. In addition, little evidence was found for departures from expectations of independence between any of the three STR and other previously investigated microsatellite polymorphisms. Received: 19 October 1996 / Received in revised form: 6 January 1997     

Semi-automatic DNA profiling in a Hungarian Romany population using the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO

A population study of Hungarian Romanies was carried out for the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO. After multiplex PCR amplification semi-automatic DNA profiling was performed using an ALF DNA sequencer. At the loci investigated there was little and no evidence for departures from Hardy-Weinberg expectations and linkage equilibrium, respectively. The allele sizing accuracy of the ALF DNA sequencer was increased to a high level (99.97% on average) by applying external and internal markers. Allele frequency distributions of the STR loci, with one exception, were significantly different between the Romany and other Hungarian population databases. On the other hand, however, only small differences in frequencies of individual phenotypes were found. Received: 30 December 1996 / Received in revised form: 11 March 1997     

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.     

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     

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     

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     

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     

Data on the loci LDLR, GYPA, HBGG, D7S8 and GC in a South Polish population

Allele and genotype frequencies were determined in a sample of 102 inhabitants from South Poland with a commercial PCR based typing kit. No deviations from Hardy-Weinberg expectations were found. The combined power of discrimination for the five loci was 0.994. The systems did not show any allelic association between loci. The polymarker set was validated as useful for paternity testing and individual identification in a Polish population. Received: 21 February 1997 / Received in revised form: 1 September 1997     

A study on the short tandem repeat systems HumCD4, HumTH01 and HumFIBRA in population samples from Yemen and Egypt

The short tandem repeat systems (STRs) HumCD4 (CD4), HumTH01 (TH01) and HumFIBRA (FGA) were amplified by the polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. PCR products were separated on native horizontal discontinuous gel electrophoresis followed by silver staining. The distribution of observed phenotypes did not deviate from Hardy-Weinberg equilibrium. While significant differences between both Arab populations and an European population from Austria were found at all loci, differences between the Egyptian and the Yemenian samples were found only for CD4. In a number of verified Austrian families (TH01: 426 meioses, CD4: 275 meioses, FGA: 144 meioses) no mutations were found. The observation of a TH01 allele consisting of 4 repeats was confirmed by sequencing. Moreover we report the structure of a TH01 allele 6.3 observed in a Hungarian Caucasian population. Received: 20 May 1997 / Received in revised form: 1 September 1997     

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     

Population data on 6 short tandem repeat loci in a sample of Caucasian-Mestizos from Colombia

Blood samples from 409–452 unrelated Colombian Caucasian-Mestizo individuals were amplified and typed for six short tandem repeat (STR) markers (HUMF13A01, HUMFES/FPS, HUMVWA, HUMCSF1PO, HUMTPOX, HUMTH01). The allele frequencies, genotype frequencies, heterozygocity, mean paternity exclusion chance, polymorphism information content, discrimination power, assumption of independence within and between loci and Hardy Weinberg equilibrium were determined. The results demonstrate that all markers conform to Hardy-Weinberg equilibrium expectations. In addition, the results demonstrate the assumption of independence within and between the loci analysed. The mean exclusion chance (MEC) was 0.9851 for all six STR loci analysed and the discrimination power (DP) was 0.9999973. Therefore, this Colombian population database can be used in identity testing to estimate the frequency of a multiple PCR-based locus DNA profile in forensic cases as well as in paternity testing. Received: 24 September 1998 / Received in revised form: 22 December 1998 / Accepted: 11 January 1999     

An investigation of the TH01 locus in a population from northern Thailand

The STR locus HUMTH01 was studied in 110 unrelated Thais from the area of Chiang Mai in North Thailand. By using PCR and vertical PAGE, six alleles were identified and the frequencies ranged from 0.005 to 0.400. The allele frequency distribution in this population showed significant differences from a Japanese population and other ethnic populations but was similiar to Asians in the USA and Australia. The genotype distribution meets Hardy-Weinberg expectations. The average power of exclusion (in no-parent and one-parent cases) and the discriminating power (DP) were calculated to be 0.3020, 0.4761 and 0.8722 respectively. Received: 9 December 1996 / Received in revised form: 7 April 1997     

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     

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     

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     

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     

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     

The polymorphisms of DYS388 and DYS392 on the Y chromosome in Japanese and German populations

The analysis of a genotype survey in Japanese and German populations at the loci DYS388 and DYS392 located on the Y chromosome is reported. The gene diversities of DYS388 were 0.34 and 0.30 in the Japanese and German males, respectively, and six alleles were found in both groups. The gene diversities of DYS392 were 0.65 and 0.64 and the number of alleles was 8 and 9, respectively in the two populations. The distribution of DYS388 alleles in the Japanese population was different from the German population. The allele distribution of DYS392 showed significant differences among Asian populations. Received: 5 January 1998 / Received in revised form: 27 April 1998     

Population study of the short tandem repeat polymorphisms HumTH01, HumvWA31, HumFESFPS and HumF13A01 in Sicily (Southern Italy)

Population genetic studies were carried out on randomly selected and unrelated healthy individuals from Sicily (n = 140–150 individuals) using the short tandem repeat (STR) systems HumTH01, HumvWA31, HumFESFPS and HumF13A01. After vertical electrophoresis on polyacrylamide denaturing gels 6 alleles could be identified for TH01, 9 for vWA31, 7 for FESFPS and 11 for F13A01. No significant deviations from Hardy-Weinberg were observed. Received: 9 June 1997 / Received in revised form: 14 January 1998     

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