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PubMed2003

Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4).

DNA typing of 8 recently described STRs on the Y chromosome was carried out by means of 2 multiplex amplification reactions for 134 unrelated males from Cantabria, a region in northern Spain. Multiplex 1 included loci DYS460 (GATA A7.1), GATA A10, GATA H4 and DYS439; multiplex 2 included DYS461 (GATA A7.2), GATA C4, DYS437 and DYS438. Haplotype diversity was found to be 99.36%, similar to that obtained with the standard 9-STR set ("minimal haplotype") of the European Y-user group (99.35%). The 13-locus haplotype resulting from the combination of the standard minimal haplotype and the 4-locus multiplex 1 showed a 99.89% diversity. Further inclusion of the 4 loci in multiplex 2 resulted in a haplotype diversity of 99.93%. The combination of the "minimal haplotype" and the multiplex 1 in the present study may be an efficient way of increasing the power of discrimination in forensic cases.

Alleles↗
PubMed2003

Y-chromosomal STR haplotypes in a Romanian population sample.

A set of seven STR-loci mapping on the male-specific region of the human Y chromosome (DYS19, DYS385, DYS389 I/II, DYS390, DYS391, DYS392, DYS393) were typed by means of two multiplex PCR reactions and capillary electrophoresis in a Romanian population sample of 104 unrelated males. Among the 97 different haplotypes observed, 92 were unique, while 5 occurred more than once. The observed haplotype diversity was 0.989.

Chromosomes, Human, Y↗
PubMed2003

Erroneous identification in a mixed population: simulation using Israeli STR data.

Allele distributions of 10 short tandem repeat (STR) polymorphic DNA loci used in forensic and paternity testing were determined for a cohort comprising 163 individuals representing a mixed Jewish Caucasian population. Typing was carried out by the commercial AmpF lSTR SGM Plus kit. The polymorphism and the utility of three of these markers for forensic studies in Israel were established for the first time. Results were compared with data for U.S. Caucasians and African Americans. The probability of identity of two persons of different ethnic origins for identification purposes is discussed. A lemma is presented to show that the chance of erroneous identification of an innocent person who belongs to a population that had not committed a crime will, in most cases, be smaller than for those who belong to a population that had truly committed the crime.

Black or African American↗
PubMed2004

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 chi(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.

Adult↗
PubMed2004

Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region.

In the course of routine genotyping of forensic reference samples by multiplex PCR, an allelic drop-out due to mutations in the primer binding regions of the highly polymorphic STR marker ACTBP2 was observed in 17 samples. The variation rate was estimated to be 0.0014 (95% confidence interval: 0.0006-0.003). The most frequently found mutation was an G to A transition in the reverse primer binding region which was present in 14 out of 17 cases. To overcome the problem we have added a modified reverse primer to different multiplex kits that led to the correct genotype.

Binding Sites↗
PubMed2004

Characterisation of three Amerindian populations from Hidalgo State (Mexico) by 15 STR-PCR polymorphisms.

The purpose of this study is to report allele frequency data of three ethnic Amerindian population samples: the Otomi (Hna-hnu) from eastern Sierra Madre and Ixmiquilpan valley and the Huasteco from La Huasteca. These groups were characterised by 15 STR-PCR polymorphisms (HumTH01, HumvWA, D18S51, HumTPOX, D19S433, D16S539, D13S317, D8S1179, D7S820, D5S818, HumFGA, CSF1PO, D2S1338, D3S1358 and D21S11). No significant deviations in observed allelic frequencies from Hardy-Weinberg equilibrium were found for all the studied systems. From the forensic point of view, the heterozygosity value, power of discrimination and the a priori chance of exclusion were calculated.

DNA Fingerprinting↗
PubMed2004

Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil).

The 17 Y chromosome STR loci DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA C4, GATA H4 and GATA A10 were analyzed in a male sample of 126 unrelated individuals from Rio de Janeiro. No shared haplotypes were observed, demonstrating the usefulness and informative power of these Y-STRs in male lineage identification in Rio de Janeiro. Pairwise haplotype analysis showed no significant differences in the comparison of Rio de Janeiro with Iberian samples from different regions of Portugal and Spain, as well as with other Caucasian samples from South America, namely Costa Rica, Buenos Aires (Argentina) and Sao Paulo (Brazil). The same set of Y-STRs was also typed in 119 father/son pairs and among 2,023 allele transfers, 8 mutations were observed with an overall mutation rate of 0.003955+/-0.001396 per locus/meiosis across the 17 loci. Except in one case, all mutations were single step. For DYS438 a four-step mutation was found which has never been reported before, where allele 10 mutated to allele 6.

Brazil↗
PubMed2004

The Fang population of Equatorial Guinea characterised by 15 STR-PCR polymorphisms.

Allele frequencies for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D19S433, HUMVWA31A, HUMTPOX, D18S51, D3S1358, HUMTHO1, D13S317, D16S539, D2S1338, D5S818 and HUMFGA) were analysed in the Fang population of Bioko Island, Equatorial Guinea. No deviation from Hardy-Weinberg equilibrium was found for all loci. Statistical parameters demonstrated the forensic utility of the analysed systems.

DNA Fingerprinting↗
PubMed2005

Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia.

We have analyzed 11 Y-STR loci (DYS19, the two DYS385 loci, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DXYS156Y) in 700 males from ten ethnic groups in east Asia in order to evaluate their usefulness for forensic and population genetic studies. A total of 644 different haplotypes were identified, among which 603 (86.14%) were individual-specific. The haplotype diversity averaged over all populations was 0.9997; using only the nine Y-STRs comprising the "minimal haplotype" (excluding DYS388 and DXYS156Y) it was 0.9996, a value similar to that found in 1924 samples from other Asian populations (0.9996; Lessig et al. Legal Medicine 5(2003) 160-163), and slightly higher than in European populations (0.9976; n=11,610; Roewer et al. For Sci International (2001) 118:103-111). All of the individual east Asian populations examined here had high haplotype diversity (> or =0.997), except for the Mongolians (0.992) and Manchurians (0.960). The most frequent haplotype identified by the nine markers was present at only 1% (7/700). Population comparisons based on Phi(ST) or rho genetic distance measures revealed clustering according to the traditional northeast-southeast distinction, but with exceptions. For example, the Yunnan population from southern China lay among the northern populations, possibly reflecting recent migration, while the Korean population, traditionally considered northern, lay at the boundary between northern and southern populations. An admixture estimate suggested 55(51-59)% northern, 45(41-49)% southern contribution to the Koreans, illustrating the complexity of the genetic history of this region.

Asia, Southeastern↗
PubMed2005

Allele frequencies for 15 STR loci in a population from the Republic of Macedonia.

Allele frequencies of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were determined in a sample of 163 unrelated individuals from the Republic of Macedonia. AmpFISTR Identifiler Kit (Applied Biosystems) was used for PCR amplification. For all 15 loci, the combined matching chance is 6.6 x 10(18) and the power of exclusion is 99.999954%.

DNA Fingerprinting↗
PubMed2005

Short amplicon STR multiplex for stain typing.

We developed a short tandem repeat (STR) typing kit based on DNA database systems that are included in, for example, the Interpol Standard Set of Loci recommendations (i.e., TH01, VWA, D3S1358, FGA) and the gender typing system Amelogenin. Two different multiplex sets were tested using the fluorescent dyes FAM, JOE, and VIC. The PCR results were compared to the commercially available AmpFISTR Blue kit, which contains the STRs D3S1358, VWA, and FGA. The advantage of our multiplex compared with the Blue kit was the generation of shorter amplicons (<200 bp) and the higher combined power of discrimination.

Amelogenin↗
PubMed2006

Y-STR haplotypes in populations from the Eastern Mediterranean region of Turkey.

We present the frequency distributions of Y-haplotypes determined by ten Y-chromosomal STR polymorphisms (i.e., DXYS156-Y, DYS19, DYS385, DYS389 I and II, DYS390, DYS391, DYS392, DYS393) in unrelated males from the Eastern Mediterranean region of Turkey (104 Turkish and Arabian-speaking Eti Turks from Adana area, 111 Roma and 110 Turks, Kahramanmara degrees area). The haplotype diversity was 0.974 in the Eti Turks, 0.979 in the Roma, and 0.989 in the Turks. Two variant alleles were characterized by sequencing, i.e., allele 9.2 at DXYS156 and 12.2 at DYS385. Some of the haplotypes are particular to one of the three populations; some are shared by all three populations. A search against the Y-Haplotype Reference Database revealed several matches to samples not only from Turkey and neighboring regions (e.g., Syria, Iraq) but also from all over Europe.

Alleles↗
PubMed2005

Population study of Y-chromosome STR haplotypes in Japanese from the Tokushima.

The Y-chromosome short tandem repeat (STR) systems including DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII were investigated in 121 Japanese males (Tokushima area). Analysis of the nine loci permitted classification of the samples into 107 haplotypes, and the haplotype diversity was estimated to be 0.989. DYS385 showed the highest gene diversity (GD) value (GD=0.946), while DYS391 showed the lowest GD value (GD=0.27). Furthermore, in DYS392, we found a new mutant allele that added a T within the repeat region (a mutation in the repetitive region), and the allele was designated 13.1 according to the sequence structure. We also detected allele 20 in DYS392 as a new allele. In DYS385, a new allele 26 that has not been previously reported was observed.

Asian People↗
PubMed2005

Polish population study on Y chromosome haplotypes defined by 18 STR loci.

Polymorphism of 18 STR loci specific to the human Y chromosome (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS460, GATA H4.1, DYS385 a/b, and YCAII a/b) was evaluated by means of a multiplex (octadecaplex) PCR reaction and capillary electrophoresis in a Polish population sample of 208 unrelated males. A total of 192 different haplotypes and 183 unique haplotypes were identified. The observed haplotype diversity was 0.998, while discrimination capacity was 92.3%. DYS389 was shown to be the most valuable in discrimination of similar haplotypes, whereas DYS388, DYS393, DYS426, and DYS438 did not affect the discrimination power of the multiplex.

Alleles↗
PubMed2006

Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample.

Two multiplex polymerase chain reaction systems for the automated profiling of 12 X-chromosomal short tandem repeat (STR) markers were developed. Multiplex A consisted of DXS6789, DXS6809, GATA172D05, DXS101, DXS8378, and DXS8377. Multiplex B consisted of DXS7132, DXS6800, DXS6801, DXS7424, HPRTB, and DXS10011. The set of amplified X-STRs was designed to include groups of closely linked markers (DXS101-DXS7424 and DXS6789-DXS6801-DXS6809) to generate highly informative haplotypes for kinship testing. A population genetics study of the 12 X-STRs was conducted in a northwestern Italian population sample (n=160, 80 women and 80 men). A diallelic pattern at locus DXS6789 was observed in one man.

Chromosomes, Human, X↗
PubMed2001

Statistical analyses to support forensic interpretation for a new ten-locus STR profiling system.

A new ten-locus STR (short tandem repeat) profiling system was recently introduced into casework by the Forensic Science Service (FSS) and statistical analyses are described here based on data collected using this new system for the three major racial groups of the UK: Caucasian. Afro-Caribbean and Asian (of Indo-Pakistani descent). Allele distributions are compared and the FSS position with regard to routine significance testing of DNA frequency databases is discussed. An investigation of match probability calculations is carried out and the consequent analyses are shown to provide support for proposed changes in how the FSS reports DNA results when very small match probabilities are involved.

Asian People↗
PubMed2001

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.

Black People↗
PubMed2001

Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations.

In parentage testing with male children, Y-chromosomal STR evidence is gaining more and more importance. In some cases, multilocus haplotypes of related persons can differ at a single locus due to a mutation. In this work, a likelihood approach is presented for the calculation of a probability for paternity under consideration of a single mutation event on the Y-chromosome. The new methodology is applied to two case examples.

Child↗