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Abstract: Eighteen Y-chromosomal microsatellite loci (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS460, GATA H4.1, DYS385 a/b, YCAII a/b) were analyzed in 568 males from Belarus, Poland and Slovakia by means of a multiplex (octadecaplex) PCR reaction and capillary electrophoresis in order to compare their usefulness in forensic practice individually and in a haplotype format. Analysis of molecular variance (AMOVA) revealed significant differences between the three populations and excluded one common Y-STR database. Markers responsible for the differences between populations were identified using a chi-square test for homogeneity and locus-by-locus AMOVA. Selection of loci showing homogeneity enabled establishment of a common haplotype database for the studied populations. This approach may become an efficient method for Y-STR databasing for larger ethnogeographic areas as soon as consecutive homogeneity-showing markers are identified. [Copyright &y& Elsevier]

Y-chromosomal SNP markers are becoming increasingly more popular among forensic geneticists, but since they constitute variants specific to the ethnic origin, detailed population studies are required. Research into frequency of haplogroup N-M46 in the Belarusian population detected a mutated allele in 22 males, including one with a very distinct Y-STR haplotype. Sequencing of the M46 locus of this individual revealed the presence of a novel Y-SNP nearby the M46 locus, which was responsible for the erroneous assignment of the Y chromosome to the haplogroup N-M46. An impact of the identified polymorphism on discrimination of alleles of the M46 locus with various techniques was discussed, and solutions ensuring correctness of the genotyping results were proposed.

This work develops a detailed STR database from 11 population samples and samples from paternity analyses from different districts of Belarus. The combined data on 2020 individuals form a total database for the country, with the exclusion power of 99.987% based on 11 STR loci. Possible differentiation in allele frequencies between population samples, small in terms of F-statistics and undetectable by standard statistical tests, is discussed.