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From sequence database information we have newly identified three male-specific and polymorphic tetranucleotide STRs, DYS443 (GDB: 10807127), DYS444 (GDB: 10807128) and DYS445 (GDB: 10807129) on the Y chromosome. Analysis of 190 Japanese males revealed 6, 5 and 4 alleles in the DYS443, DYS444 and DYS445 systems, with calculated STR diversities of 0.68, 0.57 and 0.53, respectively. The cumulative haplotype diversity of the five Y-STRs DYS441, DYS442, DYS443, DYS444 and DYS445 was calculated to be 0.95 and therefore application of these STRs may yield very useful information for forensic individualization. [ABSTRACT FROM AUTHOR]

The genotyping of two population samples from Galicia and northern Portugal was performed for nine STR loci using a single multiplex reaction with the AmpF lSTR Profiler Plus PCR amplification kit which co-amplifies the systems D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and the X-Y homologous gene amelogenin. Allele frequencies for these nine tetranucleotide repeat markers were calculated and no significant differences were observed when comparing these two populations. Conformity with Hardy-Weinberg equilibrium proportions was good for all systems in both samples. The combined power of exclusion was 99.981% and 99.980% in Galicia and northern Portugal, respectively and the combined power of discrimination was greater than 99.999%. Segregation analysis of all loci detected two incompatibilities, one in D3S1358 (out of 112 meioses) and another in D7S820 (out of 104 meioses). Both could be explained by single-step mutations. In general co-amplification was good except for some relatively degraded samples in which poor amplification was observed for the largest STRs. Nevertheless the system is technically robust even when small amounts of template DNA are used and in addition is highly informative and time-saving. However, caution should be taken in the interpretation of profiles in degraded samples and the apparently high mutation rate of D3S1358 and D7S820 should also be kept in mind. [ABSTRACT FROM AUTHOR]

A set of seven Y-chromosomal STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393) with the addition of the bilocal marker DYS385 was used to generate male-specific haplotype databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. At the locus DYS385 three types of intermediate sized alleles were detected in six males. The presence of a (GA) dinucleotide, probably due to an (AA) deletion in the second (GAAA) repeat of the polymorphic repeat region leads to an intermediate allelle 17.2. The intermediate alleles 17.-1 and 18.-1 with the consensus repeat structure of (GAAA)17 and (GAAA)18, respectively, were found to lack a T in the same (T)7 stretch located within the 3′ flanking region of each allele. The forensic efficiency values for the Romany population were significantly lower than those found in the Central Hungarian and other non-isolated Causasian populations, which may imply a possible common paternal ancestry of some haplotypes in the Romany sample. With pairwise comparisons of inter-population molecular variance, the two populations analyzed here and an Italian population sample, could be clearly distinguished using the seven monolocal Y-STRs. A sizing precision of ≤ 0.14 nucleotide standard deviation was obtained with capillary electrophoresis carried out on an ABI Prism 310 Genetic Analyzer. Objective and accurate genotyping is thus possible using an internal size standard with a high density of fragments. [ABSTRACT FROM AUTHOR]

A system of nomenclature is proposed for the complex STR system ACTBP2 (SE33) in order to facilitate data exchange between laboratories.The nomenclature conforms to the ISFH recommendations as far as it is possible for such complex systems. A blind trial was carried out between up to 20 laboratories to ascertain the reproducibility of the nomenclature under working conditions. The population studies carried out have established that there are minimal regional differences in the allele frequencies and that the system of nomenclature is robust. [ABSTRACT FROM AUTHOR]

By means of a multicenter study, a large number of males have been characterized for Y-chromosome specific short tandem repeats (STRs) or microsatellites. A complete summary of the allele frequency distributions for these Y-STRs is presented in the Appendix. This manuscript describes in more detail some of the population genetic and evolutionary aspects for a restricted set of seven chromosome Y STRs in a selected number of population samples. For all the chromosome Y STRs markedly different region-specific allele frequency distributions were observed, also when closely related populations were compared. Haplotype analyses using AMOVA showed that when four different European male groups (Germans, Dutch, Swiss, Italians) were compared, less than 10% of the total genetic variability was due to differences between these populations. Nevertheless, these pairwise comparisons revealed significant differences between most population pairs. Assuming a step-wise mutation model and a mutation frequency of 0.21%, it was estimated that chromosome Y STR-based evolutionary lines of descent can be reliably inferred over a time-span of only 1950 generations (or about 49000 years). This reduces the reliability of the inference of population affinities to a historical, rather than evolutionary time scale. This is best illustrated by the construction of a human evolutionary tree based on chromosome Y STRs in which most of the branches connect in a markedly different way compared with trees based on classical protein polymorphisms and/or mtDNA sequence variation. Thus, the chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs. However, in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.g. base-substitutions. [ABSTRACT FROM AUTHOR]

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Copyright of International Journal of Legal Medicine is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

From sequence database information, we have identified two male-specific and polymorphic tetranucleotide STRs, DYS 441 (GDB:10013873) and DYS 442 (GDB: 10030304), on the Y chromosome. Analysis of 184 males allowed 7 and 5 alleles to be distinguished in the DYS 441 and DYS 442 systems, respectively, yielding 21 haplotypes. The gene diversities were 0.72 and 0.51, respectively and the haplotype diversity was 0.85. [ABSTRACT FROM AUTHOR]

Population studies were carried out on German and Turkish individuals from South-West Germany using the short tandem repeat (STR) systems HumFibra (n = 138 Turkish and 1161 German individuals) and HumACTBP2 (n = 202 Turkish and 1338 German individuals). After electrophoresis 19 alleles could be identified for HumFibra and 55 for HumACTBP2. No significant deviations from Hardy-Weinberg equilibrium were observed. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Population genetic studies were carried out on a South Hungarian population ( n = 111 individuals). The short tandem repeat (STR) systems HumVWA, HumTH01, HumF13B, HumCD4, HumFES and HumFIBRA (FGA) were investigated by PCR amplification. All loci met Hardy-Weinberg expectations. [ABSTRACT FROM AUTHOR]

Allele frequencies at the short tandem repeat (STR) loci HumACTBP2 and HumVWA were determined in 118 unrelated individuals from Northern Italy (Milan area). For locus HumACTBP2 (SE33) a total of 39 alleles was observed. Furthermore, two interalleles (N18m + N19m) and one allele (> N35) were found which were not observed in a wider German population survey (n = 560). For the STR system HumVWA, 7 alleles could be detected. Both systems showed no significant deviation from Hardy-Weinberg equilibrium. A comparison of Italian and German population data revealed no significant differences for locus HumVWA, while significant differences were observed for locus HumACTBP2. [ABSTRACT FROM AUTHOR]

Population genetic studies were carried out on Caucasians from southern Turkey ( n = 204 individuals) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in polyacrylamide gels, 6 alleles could be identified for HumTHO1, 7 alleles for VWA and 26 alleles for ACTBP2. No significant deviations from Hardy-Weinberg equilibrium could be observed. [ABSTRACT FROM AUTHOR]

Population studies were carried out on unrelated individuals of Croatian ancestry. Genomic DNA was amplified by the polymerase chain reaction (PCR) at the polymorphic microsatellite loci HUMCD4 ( n = 105 individuals) and HUMF13B ( n = 108 individuals). After horizontal polyacrylamide gel electrophoresis followed by silver staining 6 alleles and 12 genotypes were observed for HUMCD4 and 6 alleles and 13 genotypes could be identified for HUMF13B. Data obtained were in concordance with the prediction of Hardy-Weinberg equilibrium. The allele frequency data were compared with Austrian and Italian population samples and no significant deviations between these populations were observed. [ABSTRACT FROM AUTHOR]

Frequency data for the STR system HumFGA were obtained from a North Italian population sample (Milano area) of 201 unrelated individuals. PCR products were detected by horizontal polyacrylamide gel electrophoresis and a total of 15 alleles were identified by side-by-side comparison with a commercially available sequenced allelic ladder. The observed genotype distribution showed no significant deviation from Hardy-Weinberg equilibrium. The high information content (discrimination power > 0.96, polymorphism information content > 0.84) render this system a useful tool in forensic routine casework both in criminal and paternity cases. [ABSTRACT FROM AUTHOR]

Allele frequencies of the Short tandem repeat systems HumVWA and HumACTBP2 were determined from 105 unrelated individuals from the area of Szeged, Hungary. A total of 8 alleles was detected for VWA, and 23 alleles were found for ACTBP2. In both systems no deviations from Hardy-Weinberg equilibrium were observed. A comparison of the Hungarian and German frequency profiles revealed significant differences at both STR loci. [ABSTRACT FROM AUTHOR]

Population data studies for the three tetranucleotide STR systems HumTH01, HumVWA and FES/FPS were carried out on a Caucasian population sample from Lower Franconia (Germany). The observed heterozygosities were 0.83, 0.80 and 0.73, respectively, and the discrimination power of the triplex was 0.9995. All loci were in accordance with Hardy-Weinberg equilibrium tested using the χ-analysis. [ABSTRACT FROM AUTHOR]

Allele frequencies of the AmpFLP system APO B were determined in an Austrian population sample consisting of 210 unrelated Caucasian individuals living in the Salzburg region. A total of 25 different alleles could be observed. The allele distributions were in accordance with Hardy-Weinberg equilibrium. No new mutations were found in 184 meioses and seven 'interalleles' and four alleles < 29 could be detected. [ABSTRACT FROM AUTHOR]

DNA extracted from 119 unrelated individuals was analysed by the polymerase chain reaction at the polymorphic microsatellite loci HumFES/FPS ( n = 115 individuals) and HumFl3B ( n = 119 individuals). The samples were collected from Caucasians living in the area of Milano (northern Italy). After horizontal polyacrylamide electrophoresis, 8 alleles were observed for HumFES/FPS, and 5 for HumF13B. Testing for Hardy-Weinberg equilibrium showed no significant deviation. The allele frequency data were compared with a German and a Turkish population sample. [ABSTRACT FROM AUTHOR]

Allele frequencies of the Short Tandem Repeat locus HumD21S11 were determined analysing 119 unrelated individuals from the area of Milano (Northern Italy). A total of 13 alleles was detected. One allele (< 26) was found which has never been observed in a wider German population sample. The system showed neither significant deviation from Hardy-Weinberg equilibrium nor significant differences with a German population sample. [ABSTRACT FROM AUTHOR]