Molecular characterisation of four human Y-specific microsatellites (DYS434, DYS437, DYS438, DYS439) for population and forensic studies

In this work we present results on DYS434, DYS437, DYS438 and DYS439 loci s tudied in three population samples from North Portugal (N: 69), Macao (N: 5 9) and Mozambique (N: 64). Gene and haplotype diversity values are presente d and compared. Gene diversity values ranged from 0.0290 to 0.0620 for DYS4 34; 0.0615 to 0.5959 for DYS437; 0.4906 to 0.6424 for DYS438; 0.5873 to 0.7 038 for DYS439. The highest average gene diversity was found in Macao and t he lowest in Mozambique. Haplotype diversity in North Portugal, Macao and M ozambique was calculated to be 0.925, 0.928 and 0.787, respectively. Allele and haplotype frequency distributions for all markers were compared between the three populations. At the haplotype level all the differences b etween pairs of samples were significant. Sequencing analysis was performed for all alleles found in the four loci. I dentical flanking sequences were observed with most of the alleles differin g only by the repeat number. However, two variations were found in allele 1 0 of DYS438 : one in a Macao sample presenting a TTTTA before the last TTTT C repetition and one in a Portuguese sample showing a base substitution (A/ C) at position 7 downstream from the tandem repeat. A base substitution (C/ T) at position 3 upstream from the repeat motif was also found in allele 14 of DYX437 in a sample from Mozambique.