title: Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.
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.
authors.affiliation: Department of Public Health Sciences and Pediatrics, University of Turin, Italy. Electronic address: carlo.robino@unito.it.
authors.forename: C
authors.initials: C
authors.lastname: Robino
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Ralf
authors.affiliation: Department of Public Health Sciences and Pediatrics, University of Turin, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pasino
authors.affiliation: Department of Public Health Sciences and Pediatrics, University of Turin, Italy.
authors.forename: M R
authors.initials: MR
authors.lastname: De Marchi
authors.affiliation: Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Macleod, Australia.
authors.forename: K N
authors.initials: KN
authors.lastname: Ballantyne
authors.affiliation: Department of Forensic Genetics, Studio Indagini Mediche e Forensi (SIMEF), Reggio Calabria, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Barbaro
authors.affiliation: Department of Medical and Surgical Sciences, Institute of Legal Medicine, University of Bologna, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bini
authors.affiliation: Department of Biomedical and Surgical Sciences, Section of Legal Medicine and Forensic Science, University of Perugia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Carnevali
authors.affiliation: Dipartimento di Medicina Legale, del Lavoro, Psicologia Medica e Criminologia, Università di Genova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Casarino
authors.affiliation: Department of Medical Sciences, University of Turin, Italy; HuGeF, Human Genetics Foundation, Turin, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Di Gaetano
authors.affiliation: Department of Public Health, UOL of Legal Medicine, University of Ferrara, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Fabbri
authors.affiliation: SC Medicina Legale, Università di Modena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ferri
authors.affiliation: Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Italy.
authors.forename: E
authors.initials: E
authors.lastname: Giardina
authors.affiliation: ANDROS Day Surgery Clinic, Forensic Genetics Unit, Palermo, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Gonzalez
authors.affiliation: Department of Medical Sciences, University of Turin, Italy; HuGeF, Human Genetics Foundation, Turin, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Matullo
authors.affiliation: SOD Genetics Diagnostics, Forensic Genetics, Azienda Ospedaliera Universitaria Careggi, Florence, Italy.
authors.forename: A L
authors.initials: AL
authors.lastname: Nutini
authors.affiliation: Section of Legal Medicine, Università Politecnica Delle Marche, Ancona, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Onofri
authors.affiliation: Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Piccinini
authors.affiliation: Interdisciplinary Department of Medicine, Section of Legal Medicine, University of Bari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Piglionica
authors.affiliation: Department of Molecular Medicine, University of Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Ponzano
authors.affiliation: Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Previderè
authors.affiliation: Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, "Aldo Moro" University of Bari, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Resta
authors.affiliation: Istituto di Medicina Legale, Università Cattolica del Sacro Cuore, Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Scarnicci
authors.affiliation: Department of Biopathology, Medical and Forensic Biotechnologies, University of Palermo, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Seidita
authors.affiliation: Department of Medicine, Surgery and Health, University of Trieste, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Sorçaburu-Cigliero
authors.affiliation: Dipartimento di Sanità Pubblica e Medicina di Comunità, Università degli Studi di Verona, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Turrina
authors.affiliation: Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Verzeletti
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Kayser
mesh_terms: D001483:Base Sequence; D041322:Chromosomes, Human, Y; D003299:Cooperative Behavior; D017931:DNA Primers; D030541:Databases, Genetic; D006239:Haplotypes; D006801:Humans; D007558:Italy; D011786:Quality Control
chemical_list: D017931:DNA Primers
keywords: Haplotype; Italy; Lineage differentiation; Rapidly mutating Y-STRs (RM Y-STRs); Relative differentiation; Y-chromosome