Abstract
Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR)
loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs,
including those conventionally used in forensic casework, have been demonstrated to
improve the resolution of male lineage differentiation and to allow male relative
separation usually impossible with standard Y-STRs. However, large and geographically-detailed
frequency haplotype databases are required to estimate the statistical weight of RM
Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian
Working Group (GEFI) of the International Society for Forensic Genetics launched a
collaborative exercise aimed at generating an Italian quality controlled forensic
RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations
covering northern, central and southern areas of the Italian peninsula plus Sicily
were collected, including both “rural” and “urban” samples classified according to
population density in the sampling area. A subset of individuals was additionally
genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems
(75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs.
Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among
the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior
to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that
99.996% of the haplotype variation was within populations, confirming that genetic-geographic
structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian
populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype
sharing within Italian populations was very rare (0.27% non-unique haplotypes), and
lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs
were investigated, and 20.1% of them could be discriminated by the whole set of 13
RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given
the mutation rates of the markers used. Results obtained from a high-coverage Italian
haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs
to resolve male lineages previously observed globally, and attest the unsurpassed
value of RM Y-STRs for male-relative differentiation purposes.
Keywords
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Published online: October 14, 2014
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- WITHDRAWN: Corrigendum to ‘Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise’ [Forensic. Sci. Int. Genet. 15 (2015) 56-63]Forensic Science International: Genetics
- Corrigendum to “Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise” [Forensic. Sci. Int. Genet. 15 (2015) 56–63]Forensic Science International: GeneticsVol. 34
- PreviewAn inconsistency in the nomenclature used for the rapidly mutating (RM) Y-chromosomal short tandem repeat (Y-STR) marker DYS449 was noted in the above paper [1] In this paper [1], the DYS449 allele nomenclature introduced by Ballantyne et al. [2] was used, instead of that described by Redd et al. [3] and subsequently adopted by the International RM Y-STR User Group [4] and in the AMPFlSTR® YFiler Plus kit [5]. To convert from the first [1,2] to the second [3–5] nomenclature, a simple correction factor needs to be applied, i.e.
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