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Allele frequencies of 10 X-chromosome STR loci, namely DXS7133, DXS6789, DXS6804, DXS6799, DXS8378, DXS101, DXS7424, DXS7132, DXS7423 and HPRTB were determined from healthy unrelated males and female individuals of Luoba Ethnic Group living in Tibet (SW China).
Allele frequencies and haplotypes for 12 Y-chromosomal STR loci included in the Powerplex System (Promega, Madison, USA) were determined in a sample of 113 unrelated males of Belgian origin. Ninety-nine different haplotypes were observed with an overall haplotype diversity of 0.997.
A total of 263 U.S. Caucasians, 260 African Americans and 140 U.S. Hispanics or a subset of 31 Caucasians, 32 African Americans, and 32 Hispanics were typed for 27 Y-chromosome short tandem repeat (Y-STR) markers: DYS444, DYS446, DYS449, DYS463, DYS485, DYS490, DYS495, DYS504, DYS505, DYS508, DYS520, DYS522, DYS525, DYS532, DYS533, DYS534, DYS540, DYS556, DYS557, DYS570, DYS575, DYS576, DYS594, DYS632, DYS635, DYS641, and DYS643. Allele frequencies for each locus are reported along with nomenclature based on sequence analysis.
The genomic matching technique (GMT) targets duplicated polymorphic sequences within genomic blocks in the human major histocompatibility complex (MHC), differentiating between individuals at the DNA level using a single primer pair per block. The GMT is currently used to supplement human leukocyte antigen (HLA) typing to match donor and recipient pairs for bone marrow transplantation and has the potential to be employed as a powerful exclusion tool in forensic biology. The GMT is highly reproducible, produces DNA profiles from less than 1 ng of DNA and was successfully employed to profile a range of forensic samples including buccal swabs, handled objects and fingerprints. Furthermore, GMT profiles from a single genomic block in the MHC are likely to be more discriminatory than known highly polymorphic short tandem repeat (STR) loci such as ACTBP2. As such, the GMT can reduce the cost of investigations that require profiling of multiple suspects or samples from one or more crime scenes and could be extended to profile genomic blocks in other polymorphic genetic systems in the human genome.
Allele frequencies for the nine short tandem repeat (STR) loci (D3S1358, FGA, TH01, D7S820, VWA, CSF1PO, D5S818, D13S317, TPOX) were determined in a sample of 120 unrelated individuals of the Baoan ethnic group living in northwest China. The values of observed heterozygosity (H), discrimination power (DP), a priori chance of exclusion (CE) and polymorphism information content (PIC) were calculated. All loci were in accordance with Hardy-Weinberg equilibrium (P=0.05). The obtained frequency distributions were compared with other previously reported population data.
Allele frequencies have been calculated in 13 STR loci in a Roma (Gypsy) population sample from Greece. The data can be used in forensic cases. The comparison of the allele frequencies between the Roma and the Greeks showed significant differences for the majority of the loci. Furthermore comparison to another Romany population sample was performed.
We have analysed nine autosomal STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) in Goud and Padmashali populations belonging to Chittoor and Cuddapah districts of Andhra Pradesh, India, respectively. This data was compared with the available data on Indian populations. Heterozygosity (H), power of discrimination (PD), probability exclusion (PE), typical paternity index (TPI), polymorphism information content (PIC), exact test with Bonferroni corrections and Arlequin analysis were carried out. Average heterozygosity observed in Goud and Padmashali populations were 0.82 and 0.81, respectively. Similarly, PD, PE, TPI and PIC have been found to be almost same between these two populations. Overall data analysis suggests the existence of sub-structuring in Indian populations.
Allele frequencies and haplotypes for 12 Y-chromosome STR loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439), included in the PowerPlex Y multiplex kit, were determined for a Swiss population sample of 150 male individuals. The gene diversities for the different loci were in the same range as shown for other European Population samples. The haplotype diversity was 0.9922. Pairwise haplotype analysis showed no significant differences in comparison with other European Population samples.
A total of 708 men, with Swedish names, from different parts of Sweden have been typed for the Y-chromosome minimal haplotype STR markers DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385. Of these, 403 men were of geographically undefined Swedish origin and the rest, 305, from seven defined geographical regions. PCR-products were detected by ABI377 using sequenced allelic ladders. An evaluation of the 708 chromosomes revealed 423 different haplotypes. Only 100 of the haplotypes were found more than once. The over all haplotype diversity was 0.994. The haplotype 14, 12, 28, 23, 10, 11, 13, 14-14 has the highest frequency of 5.79% and is significantly Swedish, when compared to other European populations.
The D7S1517, D3S1744, D12S391, D2S1360, D6S474, D8S1132, D5S2500, D10S2325 and D4S236613 are STR loci potentially useful for forensic purposes whose analysis has recently become facilitated by availability of a commercial kit. The purpose of the study was to evaluate the usefulness of these loci for forensic identification in a population of Central Poland. The distribution of alleles of the nine STRs was determined in sample of 353 unrelated individuals born in Central Poland and indices of forensic informativeness were calculated. The studied loci were highly informative and did not show departures from Hardy-Weinberg equilibrium. For the loci located on the same chromosomes (D2S1360, D3S1744 D4S2366, D5S2500, D7S1517, D8S1132, D12S391) as other loci commonly used for identification purposes (TPOX, D2S1338, D3S1358, FGA, D5S818, D7S820, D8S1179 and D12S391) appropriate pairwise analysis of linkage disequilibrium was performed. In all cases no statistically significant deviation from independence was found. We conclude that the studied STRs are informative and, when necessary, can be used to extend the results obtained with other STRs commonly analyzed for identification purposes, in particular the CODIS set.
In this study, 12 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS437, DYS438 and DYS439) were genotyped in the three major ethnic populations in Singapore, namely the Chinese, Malay and Indian. Allele frequency distribution, locus diversity, haplotype diversity and discrimination capacity were estimated. Analysis of molecular variance between the three ethnic populations indicated that 87.71% of the haplotypic variation is found within population and 12.29% is between populations (Fixation Index FST=0.123, p=0.000). Population pairwise comparisons showed significant Phist values between all population pairs, with the lowest (RST=0.05) for Chinese-Malay and the highest (RST=0.19) for Chinese-Indian.
The integrative relationship between population genetics and forensic biology allows for a thorough genetic characterization of extant human populations. This study aimed to genetically characterize 150 unrelated healthy donors from a general population in Iran both forensically and phylogenetically. The allelic frequencies of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were generated. This constitutes the core of polymerase chain reaction (PCR)-based DNA genetic markers in the US Combined DNA Index System (CODIS) plus two additional loci (D2S1338 and D19S433) that together are consistent with several other worldwide database requirements. There were no deviations from Hardy-Weinberg expectations. Based upon the allelic frequencies, several important forensic parameters were calculated including: gene diversity (GD) index, power of discrimination (PD), polymorphic information content (PIC) and power of exclusion (PE). G-tests indicate the allelic frequencies of the Iranians are statistically non-significant compared to two Turkish populations yet, statistically different from the remaining 18 groups obtained from the literature and examined in this study. This suggests that the Iranian dataset may be forensically equivalent to the dataset from the Turkish region of Eastern Anatolia and the general population from Turkey. Phylogenetic analysis of our population with the full set of 15 loci indicate the Iranians occupy an intermediate position relative to the major Caucasian and East Asian clades on a global level. A regional phylogenetic analysis using 13 of the 15 loci indicate the Iranians segregate in a more compact association with groups from southeastern Spain, Arabs from Morocco and Syria, and especially with the general population from Turkey and those from Eastern Anatolia. These groups are flanked by highly differentiated populations from northern India and a Berber group from Tunisia on opposing ends of the regional phylogram. This report also demonstrates the necessity to thoroughly characterize the genetic composition of populations located in geographic intersections in order to choose the appropriate dataset on which to base forensic calculations, not only at an intra-population level, but also at an inter-population level as well.
The 12Y-chromosomal short tandem repeat (STR) loci DYS19, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS385a and b were analyzed in a sample of 109 unrelated male individuals from mountainous areas of Minnan, Southeast China. A total of 95 haplotypes were identified. The allele diversity values for each locus ranged from 0.3205 (DYS391) to 0.9553 (DYS385), the haplotype diversity was 0.9863, and the discrimination capacity 0.8716.
Fifteen autosomal STR loci were typed in a population sample of 318 unrelated individuals from northern Greece. Allele frequencies were determined, and Hardy-Weinberg equilibrium tested, for the following loci: D5S818, D7S820, TH01, TPOX, vWA, CSF1PO, D16S539, D13S317, D8S1179, D3S1358, FGA, PENTA D, PENTA E, D21S11, D18S51.
The genetic variations for 15 short tandem repeat (STR) loci-D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA, were performed on a population of 210 unrelated Thai individuals using the commercially available AmpF/STR Identifiler kit.
Following a recent meeting by the ENFSI and EDNAP groups on the 4-5 April, 2005, in Glasgow, UK, it was unanimously agreed that the process of standardization within Europe should take account of recent work that unequivocally demonstrated that chance of obtaining a result from a degraded sample was increased when small amplicons (mini-STRs) were analysed. Consequently, it was recommended that existing multiplexes are re-engineered to enable small amplicon detection, and that three new mini-STR loci with alleles <130 bp (D10S1248, D14S1434 and D22S1045) are adopted as universal. This will increase the number of European standard Interpol loci from 7 to 10.
Previous studies have shown that population analyses in Hungary can be of great importance from the viewpoint of the examination of population differentiation. This study provides additional population genetic data of the Hungarian population on the thirteen CODIS core STR loci and on two penta STRs (PentaE, PentaD). Allele frequency and profile databases were generated for four population samples. Comparing the allele frequency values by G-statistic, calculating the FST indices and with the pair-wise comparisons of inter-population molecular variance (AMOVA) the four Hungarian populations could be distinguished.
Allele frequency data for the 15 STR systems and Amelogenine were determined in a population sample of healthy Amerinidian Kichwas and Blacks individuals. All loci met Hardy-Weinberg expectations and the high discrimination power of combined system showed the forensic efficiency of these genetic markers.