Revista de investigación forense

Genetic Analysis of Ten Gonosomal STR Loci in an Italian Population Using the Elucigene QSTR-XY Amplification Kit

Abstract

Enrica Ottaviani, Cristina Peconia, Ilenia Pietrangelia, Tonino Luigi Marsella, Giovanni Arcudi, Giuseppe Novelli and Emiliano Giardina

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.