Aim To investigate the population genetics of 17 short tandem repeat (STR) loci around the Y chromosome in the population of eastern Croatia. STRs were decided using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined Rabbit Polyclonal to PKA-R2beta (phospho-Ser113). by direct counting and analyzed using Arlequin 3.1 and analysis Triciribine phosphate of molecular variance calculated with the Y-chromosome haplotype reference database online analysis tool. Results A total of 207 haplotypes were recorded 197 of which were unique (90%). Haplotype diversity was 0.9993 with the most frequent haplotype found in 4 of 220 men (1.8%). Average locus diversity was 0.600 and it ranged from 0.256 for DYS392 to 0.780 for DYS458. Our results were compared with the pattern of Y-chromosome variability in publicly available populace samples based on a minimal European haplotype set of 9 STRs and the greatest resemblance was found with samples from your Croatian capital of Zagreb from Bosnia and Herzegovina and from Serbia. Conclusion This is the first description of Y chromosome haplotyping of the population of eastern Croatia which may serve as a basis for genetic epidemiology and forensic studies. Further studies are needed for characterization of the genetic structure of the Y-chromosome in the modern Croatian populace. The Y chromosome is much smaller than the X chromosome and is largely composed of repeating sequences (1). It makes up only about 2% of the total haploid genome and spans Triciribine phosphate approximately 60 Mb. The non-recombining region (NRY) of the human Y chromosome comprises approximately 95% of the chromosome (1). Most of the genes present around the Y chromosome have their homologues around the X chromosome and these genes around the X chromosome are not subjected to X inactivation. The NRY is usually flanked on both sides by pseudoautosomal regions where X-Y crossing-over is usually a normal and frequent event in male meiosis. Human Y-chromosome short tandem repeats (Y-STR) are tandemly repeated arrays of 2-7 base pair units around the NRY. They are present only in men and are transmitted from father to child unchanged as a haplotype Triciribine phosphate except for occasional mutations. Therefore Y-STR haplotyping is usually of great importance for forensic applications such as identification of unknown persons; sexual assault cases where Y-STRs provide a male-specific DNA profile; paternity screening even in cases when the alleged father is usually deceased; verification of amelogenin Y-deficient men; human migration and evolutionary studies; and historical and genealogical research (2). The frequency of individual haplotype is important in a relevant populace especially in forensic cases when the evidence and suspect match and the frequency of the Y-STR haplotype is needed to calculate a match probability (3). The increased use of human Y-STR markers in forensic analysis and in anthropological and archeological research has prompted a collaborative effort to collect haplotype data from Triciribine phosphate different populations and to produce the Y Chromosome Haplotype Reference Database (YHRD is the populace size and is the frequency of the values were calculated using analysis of molecular variance (AMOVA) with 10?000 permutations using an online tool of the YHRD. Significance was set at P?0.05. Results The initial analysis indicated a wide extent of variance of the number of alleles in different loci with the most recorded alleles in DYS458 (Table 1). Locus diversity for the entire sample was 0.600 ranging from 0.256 for DYS392 to 0.780 for DYS458. A total of 207 haplotypes were recorded 197 of which were unique (90%). Total haplotype Triciribine phosphate diversity was 0.9993 with the commonest recorded haplotype found in 4 of 220 men (1.8%) (YHRD Triciribine phosphate accession code YA003594). Discrimination capacity was 94.1%. Table 1 Allele frequencies and locus diversity values at Y chromosome short tandem repeat (Y-STR) loci in the eastern Croatian populace* AMOVA indicated that our eastern Croatian sample was closest to populations from your Croatian capital of Zagreb Bosnia and Herzegovina and Serbia. The remaining pair-wise comparisons showed significant differences (Table 2). A second-stage analysis yielded significant differences between our eastern Croatian sample and the following samples (P?0.001 in all cases): Albania (“Albanian ”.