Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations.

Admixture Allele frequencies External visible characteristics MDS SNP

Journal

Forensic science international
ISSN: 1872-6283
Titre abrégé: Forensic Sci Int
Pays: Ireland
ID NLM: 7902034

Informations de publication

Date de publication:
05 Dec 2023
Historique:
received: 09 10 2023
accepted: 02 12 2023
medline: 22 12 2023
pubmed: 22 12 2023
entrez: 21 12 2023
Statut: aheadofprint

Résumé

Forensic DNA Phenotyping can reveal the appearance of an unknown individual by predicting the External Visible Characteristics (EVC) from DNA obtained at the crime scene. Our aim is to characterize the genetic landscape of Human identification markers responsible for EVC among Mediterranean populations compared to other worldwide groups. We conducted an exhaustive search for genes involved in EVC variation. Then, variants located on these genes were extracted from public genotypic data of Mediterranean, American, African and East Asiatic populations. The genetic landscape of these Human identification markers, their allelic distribution and admixture analyses, were determined using plink, R and ADMIXTURE softwares. Our results showed that the Mediterranean populations appear close to the Mexican populations and distinguished from sub Saharan African populations living in the USA and from East Asiatic populations. We highlighted a total of 103454 common variants shared between the studied populations and among them, 25 common variants associated with EVC. Interestingly, genotype frequencies results showed that the rs17646946, rs13016869, rs977588, rs1805008 and rs2240751 variants located respectively in the TCHH, PRKCE, OCA2, MC1R and MFSD12 genes are significantly different between the Mediterranean and Asiatic populations. The genotype frequencies of the variants rs977589 and rs7179994 located in the OCA2 gene, and of rs12913832 and rs2240751 located respectively in HERC2 and MFSD12 genes are significantly different between the Mediterranean and American populations. Our work generates a large number of EVC variants that could be a valuable resource for future studies in the forensic field.

Identifiants

DOI: 10.1016/j.forsciint.2023.111906 PMID: 38128201
pubmed: 38128201
pii: S0379-0738(23)00356-0
doi: 10.1016/j.forsciint.2023.111906
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

111906

Informations de copyright

Copyright © 2023 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Dorra Becher (D)

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; Directorate of Technical and Scientific Police, Sub-Directorate of Forensic and Scientific Laboratories, Tunis,Tunisia; University of Carthage, National Institute of Applied Science and Technology, Tunis, Tunisia.

Haifa Jmel (H)

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; Genetic Typing Service, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; University of Tunis El Manar, 2092 El Manar I, Tunis, Tunisia.

Nadia Kheriji (N)

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; University of Tunis El Manar, 2092 El Manar I, Tunis, Tunisia.

Stefania Sarno (S)

Laboratory of Molecular Anthropology and Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.

Rym Kefi (R)

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; Genetic Typing Service, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia; University of Tunis El Manar, 2092 El Manar I, Tunis, Tunisia. Electronic address: rym.kefi@pasteur.tn.

Classifications MeSH