Forensic Science International: Genetics Supplement Series
Research articleMolecular characterisation and population genetics of the DYS458 .2 allelic variant
Introduction
The study of Y chromosome variation has proven a valuable tool for the investigation of human genetic history and forensic applications. Unique event polymorphisms (UEPs) have testified in the recent year an exponential rate of discovery generating sometimes confusions when comparisons across study were to be done. In order to provide to the scientific community with a well characterized Y chromosome genealogical tree to refer to the Y chromosome consortium have collected the available data to generate a reference genealogy and nomenclature [1], [2]. In a recent investigation across Italian samples, we came across a number of occurrences of an intermediate allele, indicated as .2, at DYS458 locus. The molecular characterisation of such allele, the association to a defined Y chromosome branch, its worldwide distribution and the correlated evolutionary inferences are the subject of the present work.
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Materials and methods
DNA samples of 100 subjects from Europe, North Africa, East Africa and Caucasus bearing the DYS458 .2 alleles were screened for both Y-STRs and SNPs. Literature data provided additional 30 chromosomes (Table 1). Y-Filer (Applied Biosystems, Foster City, CA) was used to simultaneous amplify 17 loci according to the manufacturer's instruction. The amplification of selected intermediate repeat variant alleles at the DYS458 were performed by PCR conditions of Redd et al. [3]. Cycle sequencing were
Results and discussion
A total of 132 chromosomes bearing the .2 intermediate allele at DYS458 locus were included in the study. Of these, 95 have been described here for the first time (Table 1).
Conclusions
We presented for the first time a detailed investigation of the DYS458 .2 allelic variant (indel in front the third repeat form the last). Molecular and phylogeographic analyses have confirmed its robustness for the identification of an informative Y chromosome lineage, so far overlapping with the M267 marker. It is noteworthy to underline that such allele appears to have been completely missed in a number of genealogical studies, raising the issue this being the case also for population
Conflict of interest
None.
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