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Haplotypic Blocks of X‐linked STRs for Forensic Cases: Study of Recombination and Mutation Rates*

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Abstract:  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.
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Document Type: Research Article

Affiliations: Unit of Legal Medicine, University of Cantabria-IFIMAV, Av Herrera Oria s/n, Santander 39011, Spain.

Publication date: January 1, 2012

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