title: Haplotypic blocks of X-linked STRs for forensic cases: study of recombination and mutation rates.
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.
authors.affiliation: Unit of Legal Medicine, University of Cantabria-IFIMAV, Santander, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Castañeda
authors.forename: Verónica
authors.initials: V
authors.lastname: Mijares
authors.forename: José A
authors.initials: JA
authors.lastname: Riancho
authors.forename: María T
authors.initials: MT
authors.lastname: Zarrabeitia
mesh_terms: D041321:Chromosomes, Human, X; D016172:DNA Fingerprinting; D017931:DNA Primers; D019075:Electrophoresis, Capillary; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D056426:Genetic Loci; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D013030:Spain; D044465:White People
chemical_list: D017931:DNA Primers