title: Forensic data and microvariant sequence characterization of 27 Y-STR loci analyzed in four Eastern African countries.
abstract: By using the recently introduced 6-dye Yfiler®Plus multiplex, we analyzed 462 males belonging to 20 ethnic groups from four eastern African countries (Eritrea, Ethiopia, Djibouti and Kenya). Through a Y-STR sequence analysis, combined with 62 SNP-based haplogroup information, we were able to classify observed microvariant alleles at four Y-STR loci as either monophyletic (DYF387S1 and DYS458) or recurrent (DYS449 and DYS627). We found evidence of non-allelic gene conversion among paralogous STRs of the two-copy locus DYF387S1. Twenty-two diallelic and triallelic patterns observed at 13 different loci were found to be significantly over-represented (p<10-6) among profiles obtained from cell lines compared to those from blood and saliva. Most of the diallelic/triallelic patterns from cell lines involved recurrent mutations at rapidly mutating loci (RM Y-STRs) included in the multiplex (p<10-2). At haplotype level, intra-population diversity indices were found to be among the lowest so far reported for the Yfiler®Plus, while statistically significant differences among countries and ethnic groups were detected when considering haplotype frequencies alone (FST) or by using molecular distances among haplotypes (ΦST). The strong population subdivision observed is probably the consequence of the patrilineal social organization of most eastern African ethnic groups, and suggests caution in the use of country-based haplotype frequency distributions for forensic inferences in this region.
authors.affiliation: Carabinieri, Reparto Investigazioni Scientifiche di Roma, Sezione di Biologia, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Iacovacci
authors.affiliation: Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy.
authors.forename: Eugenia
authors.initials: E
authors.lastname: D'Atanasio
authors.affiliation: Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy.
authors.forename: Ornella
authors.initials: O
authors.lastname: Marini
authors.affiliation: Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Rome, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Coppa
authors.affiliation: Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, Rome, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Sellitto
authors.affiliation: Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy.
authors.forename: Beniamino
authors.initials: B
authors.lastname: Trombetta
authors.affiliation: Carabinieri, Reparto Investigazioni Scientifiche di Roma, Sezione di Biologia, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Berti
authors.affiliation: Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy; Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address: fulvio.cruciani@uniroma1.it.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Cruciani
mesh_terms: D000351:Africa, Eastern; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005006:Ethnicity / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
keywords: Eastern African populations; Rapidly mutating Y-STR; Y-STR; Yfiler(®) Plus