Multiplex analysis of 13 RM Y-STR loci and determination of mutation ratios

The Y chromosome changes occurs only through mutations due to this chromosome do not recombinate except of the pseudo-autosomal area found in telomere areas. These mutations allow people to be distinguished between. Y chromosome constitutes an important place in paternity cases, brotherhood determination, sexual assaults and evolutionary studies. Therefore, loci with high in mutation rates called Rapidly Mutating Y-STR (RM Y-STR) are examined. In the studies conducted, it was observed that DYF387S1, DYF399S1, DYF403S1ab, DYF404S1, DYS449, DYS518, DYS526ab, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627 loci are appropriate for forensic use. Numerous population studies are conducted worldwide with these 13 RM Y-STR. The results analyzed are shown to be suitable for routine use of forensic analysis. In this study, mutation rates of 13 RM Y-STR will be determined by using 100 sample pairs that are confirmed to be father-son with autosomal STR loci in Ç.U. Faculty of Medicine, Department of Forensic Medicine. At the end of the study, the multiplex PCR of 13 RM Y-STR locus was optimized and made ready for routine use. It is seen that the locus with the highest discrimination power from the 13 RM-YSTR loci studied is DYF399S1 (GD = 0.996161) and the locus with the lowest discrimination power is DYS576 (GD = 0.786868). Mutation ratios; for DYS612 was 3.0 x 10-2 (95% CI, 0.0062-0.0852), DYF399S1 was 5.0 x 10-2 (95% CI, 0.0223-0.1260), for DYS547 was 2.0 x 10-2 (95% CI, 0.0024-0.0704), for DYF404S1 was 3.0 x 10-2 (95% CI, 0.0062-0.0852), for DYS626 was 1.0 x 10-2 (95% CI, 0.0002-0.0545), for DYS576 was 2.0 x 10-2 (95% CI, 0.0024-0.0704), for DYS627 was 1.0 x 10-2 (95% CI, 0.0002-0.0545), for DYS570 was 2.0 x 10-2 (95% CI, 0.0024-0.0704), for DYF387S1 was 2.0 x 10-2 (95% CI, 0.0024-0.0704) and for DYS449 was 1.0 x 10-2 (95% CI, 0.0002-0.0545). There were no mutation at DYS526 a, DYS526 b and DYS518 loci. Mean mutation ratio for 13 loci was 1.77 x 10-2 (95% CI, 0.0005-0.0067). Mean hapotype diversity for 13 locis was 1.000000. In hard cases such as identification of suspects in sexsual assault cases which involved by individuals who had same male lineage 13 RM Y-STR loci can provide crucial results. Moreover this set will facilitate to determination of hard paternity cases such as suspected fathers share same paternal lineage. Key Words: Y-STR, RM Y-STR, Population of Çukurova, Chromosome Y, Forensic Genetical Analysis, Mutation