Analysis of genetic polymorphisms associated with the presence of freckles for phenotypic prediction
Carregando...
Citações na Scopus
0
Tipo de produção
article
Data de publicação
2022
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER IRELAND LTD
Citação
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, v.8, p.26-28, 2022
Resumo
The prediction of externally visible characteristics (EVCs) is a commonly used practice by the forensic sciences as an important resource in the investigation of criminal cases in which the identity of perpetrators or victims is unknown or even to recognize decomposed cadavers. With this purpose, genetic markers associated with pigmentation traits have been widely studied by forensic scientists and, nowadays, it is possible to predict phenotypic characteristics such as hair, eyes and skin colour, as well as the presence of skin freckles by analysing single nucleotide polymorphisms (SNPs). In this study, we analysed the association of six SNPs located in pigmentation genes to the presence of freckles in individuals from the Brazilian population for forensic DNA phenotyping. The study was based within the context of a larger project on a population sample of 534 adult Brazilians of both sexes and different skin colours. DNA was extracted from peripheral blood and genotyped using the TaqMan & REG; OpenArray & REG; Real-Time PCR System (ThermoFischer Scientific) technique. Statistical analyses were carried out with the R software (version 4.0.2). As for the results obtained, three SNPs were shown to be statistically associated to the freckling, rs12203592, rs1800404 and rs222847, with CT, AG and AA genotypes being the main contributors, respectively. Variables such as sex of the individuals and skin colour were found to also contribute to the manifestation of this pigmentation trait. Further statistical analyses will be carried out to evaluate the possibility of using the SNPs in this study for phenotyping prediction of the Brazilian population, improving existing DNA phenotyping models in forensic sciences.
Palavras-chave
Freckles, SNP, Skin pigmentation, Forensic DNA phenotyping, Forensic genetics
Referências
- Andrade ES, 2017, LEGAL MED-TOKYO, V24, P78, DOI 10.1016/j.legalmed.2016.12.003
- Bastiaens M, 2001, HUM MOL GENET, V10, P1701, DOI 10.1093/hmg/10.16.1701
- Fracasso NCD, 2017, LEGAL MED-TOKYO, V25, P43, DOI 10.1016/j.legalmed.2016.12.013
- Eriksson N, 2010, PLOS GENET, V6, DOI 10.1371/journal.pgen.1000993
- Flanagan N, 2000, HUM MOL GENET, V9, P2531, DOI 10.1093/hmg/9.17.2531
- Hernando B, 2018, FORENSIC SCI INT-GEN, V33, P38, DOI 10.1016/j.fsigen.2017.11.013
- Kukla-Bartoszek M, 2019, FORENSIC SCI INT-GEN, V42, P252, DOI 10.1016/j.fsigen.2019.07.012
- MILLER SA, 1988, NUCLEIC ACIDS RES, V16, P1215, DOI 10.1093/nar/16.3.1215
- Motokawa T, 2007, PIGM CELL RES, V20, P140, DOI 10.1111/j.1600-0749.2007.00364.x
- Pneuman A, 2012, LEGAL MED-TOKYO, V14, P78, DOI 10.1016/j.legalmed.2011.12.005
- Praetorius C, 2014, PIGM CELL MELANOMA R, V27, P339, DOI 10.1111/pcmr.12232
- RHODES AR, 1991, CANCER, V67, P1990, DOI 10.1002/1097-0142(19910401)67:7<1990::AID-CNCR2820670728>3.0.CO;2-P
- Sulem P, 2007, NAT GENET, V39, P1443, DOI 10.1038/ng.2007.13