Y-chromosome STRs in an Antioquian (Colombia) population sample

Haplotype data were obtained from a sample of 777 unrelated male individuals from Antioquia Department (Colombia), for eight Y-chromosome STRs (DYS19, DYS385, DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393). A total of 442 different haplotypes were identified of which 334 were represented only once in the database and the most frequent haplotype was found in 32 individuals. A high haplotype diversity was found (99.45%). Genetic distances were calculated using previously published haplotype data and the lowest values were found for the comparisons with samples of lberian origin.     

The STR-based genetic profile of the population from Corsica island (France).

Short tandem repeats (STR) at loci HumFES/FPS, HumVWA, HumCSF1PO, HumTH01, HumFXIIIA01, HumTPOX, HumCD4, D3S1358 are markers of choice for population genetics and validated systems for forensic use. In this report, we analysed their allele frequency distribution in a sample of native blood donors from the two departments of Corsica island (France). Deviations from the Hardy-Weinberg rule and heterozygosity values consistently suggested a spatial differentiation of allele and genotype frequencies across the island. Pairwise comparisons showed that Corsican gene pool presents a high level of heterogeneity between departments and substantially differs from that of neighbouring and historically-related populations. The results suggest the use of local databases to calculate a priori statistics in human identity testing.     

Population genetics of 15 STR loci in the population of Podlasie (NE Poland).

Allele frequencies for 15 STR loci included in AmpFlSTR Profiler and AmpFlSTR SGM Plus kits were determined in a sample of 413 unrelated individuals living in the region of Podlasie (NE Poland)     

Y-chromosome variation in a Norwegian population sample

Y-chromosome DNA profiles are promising tools in population genetics and forensic science. Here we present DNA profiles of 300 unrelated Y-chromosomes of Norwegian origin. The profile is composed of eight short tandem repeats (STRs) and one single nucleotide polymorphism (SNP). In more than 2/3 of the haplotypes the modular structure in the 5' end of the minisatellite locus DYF155S1 was revealed by minisatellite variant repeat PCR (MVR-PCR) These haplotypes were also typed for deletions of fragment 50f2C (DYF155S2). Allele distribution and paternity exclusion parameters are given for each marker. The degree of haplotype diversity and its implication for statistics are evaluated. In the 300 samples 177 different haplotypes were encountered, of which 137 were observed once only. Analysis showed that the main source of variation is within the population. The Fst values were less than 0.015 in general. Haplotype grouping by the SNP demonstrated two haplogroups (Tat/T and Tat/C). Haplogroup Tat/C--found in 5.7% of the present material - is the same haplogroup as encountered in 60% of Finnish males [Am. J. Hum. Genet. 62 (1998) 1171]. Mutation analysis in 150 father/son pairs (a total of 1200 meiotic events) revealed an average mutation frequency of 0.0042 (95% CI 0.0014-0.0097).     

Mitochondrial diversity of a northeast German population sample

Mitochondrial DNA sequences of the hypervariable regions HV I and HV II were analyzed in 300 unrelated individuals born and living in the northeast corner of Germany (Western Pomerania) to generate a database for forensic identification purposes in this region. Sequence polymorphism were detected using PCR and direct sequencing analysis. A total of 242 different haplotypes were found as determined by 147 variable positions. The most frequent haplotype (263G, 315.1C) was found in 10 individuals and is also the most common sequence in Europe. Three other haplotypes were shared by 5 individuals, 2 sequences by 4, 8 haplotypes by 3, 15 sequences by 2 persons, and 213 sequences were unique. The genetic diversity was estimated to be 0.99 and the probability of two random individuals showing identical mitochondrial DNA (mtDNA) haplotypes is 0.6%. A comparison with other studies from Germany showed only little differences in the distribution of haplogroups. Nevertheless, one frequent haplotype in northeast Germany (five unrelated individuals) could only rarely be found in other German and European regions. Our results may indicate that despite a high admixture proportion in the German population some regions could demonstrate certain characteristic features.     

The blood group antigen Doa (Dombrock) in a German population sample

Blood samples from 300 unrelated persons in Northrhine-Westphalia (F.R.G.) have been tested for the Do^a (Dombrock) blood group antigen. 199 blood samples (66.3%) were found to be Do(a+).     

Study of 16 X-STRs in a prostate cancer population sample (preliminary results)

Prostate cancer, like numerous other cancers is a result of genetic alterations that accumulate during disease progression. Study of short tandem repeats (STRs) have already demonstrated that this type of polymorphism could provide a mean to rapidly scan genomes at known or unknown predisposing loci for some diseases. In this study, DNA samples of 282 unrelated males with prostate cancer and 101 apparently healthy and unrelated males were analysed with Argus X-8 (Biotype^®) and 77 with a new X-Decaplex used in a collaborative study of GEP-ISFG.     

Human Y-specific STR haplotypes in the Western Croatian population sample

Nine Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII) were analysed in a sample of 101 unrelated males from Croatia. Allelic frequencies and gene diversities for each Y-STR locus and haplotype diversity were determined. Ninety-one different haplotypes were obtained from 101 unrelated males and 84 haplotypes were unique. Three most common haplotypes were shared by 3% of the sample, one of them was not found in the online Y-STR Haplotype Reference Database (http://www.ystr.org/).     

Allele frequencies and population data for 17 Y-STR loci (AmpFlSTR Y-filer) in a Northern Portuguese population sample

Allele frequencies and population data for 17 Y-STR loci included in a new commercial kit that has recently been available, the AmpFlSTR Y-filer PCR amplification kit (Applied Biosystems), that permits the simultaneous amplification of all the markers included in the actually used European "extended haplotype", DYS19, DYS189I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385I/II, DYS438, DYS439 and also DYS437, DYS448, DYS456, DYS458, DYS635 and Y GATA H4, were obtained from a sample of 175 healthy unrelated males and 45 father-son pairs from the North of Portugal. A total of 171 haplotypes were identified, of which 167 were unique and 4 were found in 2 individuals. The haplotype diversity (99.97%) and discrimination capacity (95.43%) were calculated. We report some non-standard situations, such as allele duplications and mutations. We also report a case of disputed paternity in which duplicated alleles plus an inconsistency of the transmitted alleles appeared.     

Distribution of the minutiae in the fingerprints of a sample of the Spanish population

One of the fundamental aspects of the process of identification through fingerprints is the comparison of the minutiae between the fingermark obtained at the scene of the crime and the suspect's corresponding finger. There is no scientific basis in this process that allows the use of numerical standards, such as those kept in different countries, to obtain the identification. The recent mistakes made in the field of dactyloscopy, together with the growing rigor and scrutiny that forensic evidence undergoes in the legislative and scientific areas, have resulted in the need to reconsider some of the basic principles that support this discipline. A probabilistic estimation of the evidential value is especially necessary; therefore, it is indispensable to know and quantify the variability of the features used in the identification process. The sample studied for this research was obtained from 100 Caucasian men and 100 Caucasian women from the Spanish population, which amounts to a total of 2000 fingerprints. The different types of minutiae were located, identified, and quantified visually on the fingerprint, in four sectors, and inside and outside of a circle, whose radius cut, perpendicularly, fifteen ridges starting from the center cut of the axes that defined the sectors. According to the results obtained in this study, through dactyloscopic identification, the weight of the evidence of a minutia, such as the ridge endings, with frequencies between 55% and 65%, according to the area and gender evaluated, cannot be the same as that of a bifurcation or convergence, with frequencies of 13-18% or those of other minutiae that show frequencies lower than 3%. The significant differences found in the topological distribution of the endings, bifurcations, and convergences show the need to take into account, for its demonstrational value, the finger area in which they are evaluated. The significant association observed between the types of minutiae and the different fingers revealed a greater frequency of endings on the thumb and index fingers, and bifurcations and convergences on the middle, ring, and little fingers.     

Y-chromosome STR haplotypes from a Western Mediterranean population sample

Nine Y-chromosome STRs were investigated in a male population sample from the Western Mediterranean region of Valencia (Eastern Spain). Complete nine Y-chromosomal STRs haplotypes were obtained in 140 individuals, among which 113 different haplotypes were observed. The most common haplotype was shared by 5% of the sample, while 99 haplotypes were unique. The gene diversity was 0.9892 and the discrimination capacity was 0.8071. Significant population differences were observed with respect to other Iberian populations, such as the Basques and Northern Portugueses.     

26-Locus Y-STR typing in a Bhutanese population sample

26 Y chromosome short tandem repeat (STR) loci were amplified in a sample of 856 unrelated males from Bhutan, using two multiplex polymerase chain reaction (PCR) assays. The first multiplex is the Y-STR 20plex described by Butler et al. [J.M. Butler, R. Schoske, P.M. Vallone, M.C. Kline, A.J. Redd, M.F. Hammer, A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers, Forensic Sci. Int. 129 (2002) 10-24], and the second is a novel (but overlapping) 14plex that targets six additional Y-STRs (DYS425, DYS434, DYS435, DYS436, DYS461, DYS462) and also amplifies the amelogenin locus. The 26-loci give a discriminating power of 0.9957, though even at this resolution one haplotype occurs 24 times. We identify novel alleles at five loci and microvariants at a further three, which were characterised by sequencing. Extended (11-locus) haplotypes for these samples have been submitted to the Y-STR Haplotype Reference Database (YHRD).     

Population data for 15 Y-chromosome STRs in a population sample from Quito (Ecuador)

Population frequencies for the 9 Y-STR loci included in the "minimal haplotype" from Y-STR Haplotype Reference Database (YHRD), plus other 6 Y-STRs (DYS437, DYS438, DYS439, GATA A7.2, GATA H4 and GATA A10) were obtained for a sample of 120 males from Quito (Ecuador). One hundred and sixteen unique haplotypes were identified within the sample. Haplotype diversity (0.9994) was among the highest in comparison to other populations from Iberia and South-America. Genetic distances were calculated and our sample presented significative differences with all other samples, the lowest values being with a Guinean sample.     

Y chromosome STR polymorphisms in a Serbian population sample

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 114 unrelated males living in Serbia. A general STR allelic frequency pattern in Serbians corresponds to other European populations with the exception of loci DYS19, DYS389II and DYS385. Out of ninety identified haplotypes, 74 (64.91%) appeared in single copies. The most frequent haplotypes (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) 16-14/15-13-31-24-11-11-13 and 15-15/19-12-28-23-10-12-12 were found in four copies (3.51%). Total haplotype diversity was 0.9947+/-0.0021.     

Human Y-specific STR haplotypes in a Slovenian population sample

The allele distribution of the systems DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII were investigated in a sample of 121 unrelated males from Slovenia     

Y-chromosome STR haplotypes in a southwest Spain population sample

The Y-chromosome polymorphism of eight STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392; DYS393, DYS385) were studied in 111 unrelated individuals from the population of southwest Spain. The most common haplotype was shared by 3.6% of the sample, while 99 haplotypes were unique. The gene diversity was 0.9977.