Analysis of recombination and mutation events for 12 X-Chr STR loci : a Collaborative family study of the Italian Speaking Working Group Ge.F.I

Bini, C.; Di Nunzio, C.; Aneli, S.; Sarno, S.; Alù, M.; Carnevali, E.; Colao, E.; Di Nunzio, M.; Fabbri, M.; Fattorini, P.; Grignani, P.; Piccinini, A.; Ponzano, E.; Robino, C.; Rocchi, A.; Scarnicci, F.; Turchi, C.; Verzeletti, A.; Pelotti, S.

doi:10.1016/j.fsigss.2019.10.027

IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

IRIS è il sistema di gestione integrata dei dati della ricerca (persone, progetti, pubblicazioni, attività) adottato dall'Università degli Studi di Milano.

AIR nasce in UNIMI nel 2006 con lo scopo di raccogliere, documentare e conservare le informazioni sulla produzione scientifica dell'Università degli Studi di Milano e costituisce di fatto l'Anagrafe della ricerca dell'Ateneo.

According to the ISFG guidelines on the use of X-chromosome, the biostatistical evaluation in kinship analysis is based on a likelihood ratio approach, but since in calculation linkage and recombination events should be accounted for, an accurate estimate of mutation and recombination rates of X-markers analyzed is required. Due to the mode of genetic transmission and physical location, sometimes X-chromosome markers can be more informative than autosomal STRs and their analysis could be considered a supplementary tool in DNA testing. The increased demand to forensic laboratories for kinship investigations in complex cases explains the need not only to enlarge the Italian population database for 12 X-STRs routinely used for forensic application, but also to investigate the recombination fractions among markers. A collaborative exercise of the Italian Speaking Working Group Ge.F.I. was organized to evaluate mutation and recombination events in 12 X-STRs included in the Investigator Argus X12 kit. In order to explore the segregation stability, three-generation families (grandpa-mother-son) and two-generation families (mother-sons, father-daughters) for a total of 269 pedigrees were analyzed and calculations to estimate the recombination fractions between pairs of markers and mutation rates were performed. The statistical analysis showed evidence of inter- and intra-cluster recombination events, with almost free recombination for junction markers of linkage groups I and II and reduced recombination for linkage groups III and VI. We observed one- and two-step mutations, with an average value of 2.9 × 10−3.

Titolo:	Analysis of recombination and mutation events for 12 X-Chr STR loci : a Collaborative family study of the Italian Speaking Working Group Ge.F.I
Autori:	Bini, C. (Corresponding) Di Nunzio, C. Aneli, S. Sarno, S. Alù, M. Carnevali, E. Colao, E. Di Nunzio, M. Fabbri, M. Fattorini, P. Grignani, P. PICCININI, ANDREA ARNALDO MARIA Ponzano, E. Robino, C. Rocchi, A. Scarnicci, F. Turchi, C. Verzeletti, A. Pelotti, S. mostra contributor esterni nascondi contributor esterni
Parole Chiave:	Italian pedigrees; Linkage analysis; Mutations; Recombination fraction; X markers
Settore Scientifico Disciplinare:	Settore MED/43 - Medicina Legale
Data di pubblicazione:	dic-2019
Rivista:	FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES
Tipologia:	Article (author)
Digital Object Identifier (DOI):	http://dx.doi.org/10.1016/j.fsigss.2019.10.027
Appare nelle tipologie:	01 - Articolo su periodico

File in questo prodotto:

File	Descrizione	Tipologia	Licenza
main.pdf		Publisher's version/PDF		Administrator Richiedi una copia

Utilizza questo identificativo per citare o creare un link a questo documento:
http://hdl.handle.net/2434/683723

Citazioni

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.