Haplotypic blocks of X-linked STRs for forensic cases: study of recombination and mutation rates

In complex kinship cases, markers situated in haplotypic blocks may provide additional clues to other unlinked markers. We have established a protocol to amplify six X-chromosome microsatellites, located in two haplotype blocks, using PCR with fluorochrome-labeled primers and capillary electrophoresis. The segregation stability was explored in 92 unrelated families with individuals from three generations. Sixty-one different haplotypes were found in the DXS10079-DXS10074-DXS10075 block in the grandfathers and 96 in the mothers, with estimated haplotype diversities of 0.9828 and 0.9842, respectively. Fifty and 73 different haplotypes were found in the DXS6801-DXS6809-DXS6789 block in the grandfathers and the mothers, with estimated haplotype diversities of 0.9711 and 0.9742, respectively. We observed 10 between-cluster and one within-cluster recombinations in 99 female meioses. The overall per-locus mutation rate was 0.0034. This protocol allows for the characterization of the alleles of two sets of linked markers of the X-chromosome that can be useful in complex forensic cases.