title: Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups.
abstract: Requests for solving complex kinship casework involving at least one female are increasing and in these circumstances the analysis of X-chromosomal STR markers plays a relevant role. Actually, it is well known the superior statistical power of X-STRs compared to autosomal markers in solving relationship when two sisters or half-sisters are involved and none of parents is available, in maternity testing or in cases involving close relatives as alternative putative fathers. In addition, the possibility to amplify more loci simultaneously and the strategy based on the analysis of four linkage groups to obtain the X-haplotype provide a powerful and validated tool. Nevertheless, haplotypes frequency distribution in different populations is still needed for calculation of probabilities in relationship testing. Published haplotype frequencies from German population data are available, but in different caseworks we found unreported X-haplotypes. To enlarge the forensic X-chromosome database, we present haplotype frequencies and other parameter of forensic interest obtained from 200 anonymous DNA samples of unrelated Italian males for the four linkage groups included in the Investigator Argus X-12 kit. From the comparison of the Italian sample haplotype frequencies with other populations, significant genetic distances were found with Asian and African populations, but not with Europeans. Finally, casework examples of complex kinship analysis are presented.
authors.affiliation: Department of Medical and Surgical Sciences, DIMEC, Institute of Legal Medicine, University of Bologna, Italy. Electronic address: carla.bini@unibo.it.
authors.forename: Carla
authors.initials: C
authors.lastname: Bini
authors.affiliation: Department of Medical and Surgical Sciences, DIMEC, Institute of Legal Medicine, University of Bologna, Italy.
authors.forename: Laura Natalia
authors.initials: LN
authors.lastname: Riccardi
authors.affiliation: Department of Medical and Surgical Sciences, DIMEC, Institute of Legal Medicine, University of Bologna, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Ceccardi
authors.affiliation: Department of Medical and Surgical Sciences, DIMEC, Institute of Legal Medicine, University of Bologna, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Carano
authors.affiliation: Department of Biological, Geological and Environmental Sciences, BIGEA, Laboratory of Molecular Anthropology, University of Bologna, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Sarno
authors.affiliation: Department of Biological, Geological and Environmental Sciences, BIGEA, Laboratory of Molecular Anthropology, University of Bologna, Italy.
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
authors.affiliation: Department of Medical and Surgical Sciences, DIMEC, Institute of Legal Medicine, University of Bologna, Italy.
authors.forename: Susi
authors.initials: S
authors.lastname: Pelotti
mesh_terms: D041321:Chromosomes, Human, X; D030541:Databases, Genetic; D053803:Forensic Genetics; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007558:Italy; D018895:Microsatellite Repeats / Q000235:genetics
keywords: Haplotype frequencies; Investigator Argus X-12; Kinship analysis; STR markers; X-chromosome