Abstract
Genotyping of X-chromosomal short tandem repeats (X-STRs) is an emerging tool in forensic genetics because of its inheritance pattern, and a large number of markers has been characterized. Quantitative fluorescence polymerase chain reaction (QF-PCR) analyses of STR markers on the X-chromosome are performed routinely in medical genetics laboratories for the rapid detection of aneuploidy in chromosome X. In this study, 595 Italian participants were genotyped at 10 gonosomal STRs (DXS680, DXS98, DXS6807, DXS1187, XHPRT, DXS742, DXS6809, DXYS267, DXYS218, and DYS448) using a commercially available QF-PCR kit. Here, we report the allele architecture of DXS1187 and DXYS218, which have not previously been characterized for forensic use. The presence and extent of genetic linkage and linkage disequilibrium between all X-STRs were estimated. Allele and haplotype frequencies in the Italian population were assessed and reported together with statistical parameters.
Highlights
Analyses of X-chromosome markers are useful supplemental tools for genetic investigation, kinship analysis, deficiency paternity cases, and for interpretation of complex profiles in DNA mixtures
Several X-chromosomal markers have been characterized by the forensic DNA community, and assays have been developed to detect of Xchromosomal short tandem repeats (X-STRs) [1]
We describe the allele frequencies of these gonosomal STR markers in an Italian population, and we characterize the STR structures of the novel markers, DXS1187 and DXYS218
Summary
Analyses of X-chromosome markers are useful supplemental tools for genetic investigation, kinship analysis, deficiency paternity cases, and for interpretation of complex profiles in DNA mixtures. To current forensic DNA kits, highly polymorphic STRs are amplified readily using fluorescent dye-labelled primers, detected with capillary electrophoresis, and analyzed using GeneMapper software [3]. We examined the Elucigene QST*R-XY kit (Gen-Probe Life Sciences Ltd, Abingdon, UK), a DNA-based multiplexed assay for the rapid prenatal determination of sex chromosomal aneuploidies, including Klinefelter and Turner syndromes. This 12-plex QF-PCR enables the identification of the Amelogenin marker, which amplifies nonpolymorphic sequences on the X (104 bp) and Y (110 bp) chromosomes, and of the non-polymorphic Y-specific SRY marker, which permits gender determination. Elucigene QST*R-XY targets (1) the pseudoautosomic STR markers, DXYS267 and DXYS218, located in both the X and Y chromosomes; (2) the X-specific markers, DXS680, DXS98, DXS6807, DXS1187, XHPRT, DXS742, and DXS6809; and (3) the Y-specific marker, DYS448 [4]
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