Prediction of complex phenotypes such as skin, eyes and hair color from genotypic analyzes for forensic purposes

• Grant number: 12/02043-6
• Support Opportunities: Regular Research Grants
• Start date: May 01, 2012
• End date: December 31, 2014
• Field of knowledge: Health Sciences - Medicine - Legal Medicine and Deontology
• Principal Investigator: Cintia Fridman Rave
• Grantee: Cintia Fridman Rave
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Fernanda de Toledo Gonçalves

Abstract

The pigmentation in humans varies widely between individuals, primarily due to melanin, that is under genetic control. The two main types of this polymer are feomelanin, responsible for the lighter pigmentation and eumelanin, related to the dark pigmentation. The principal genes involved in pigmentation are MC1R, ASIP, TYR, SLC24A5, SLC45A2, HERC2 and OCA2 and their polymorphisms have been fairly studied aimed at predicting physical characteristics, mostly due to their relationships with specific populations. Variations in these genes and their interactions have been related to the phenotypic diversity of skin color, hair, eyes and sensitivity to the sun. So, the genetic bases of pigmentation should be considered in an integrated manner, considering the set of genes involved and the phenotypes determined. The prediction of phenotypes through genetic information comes to benefiting the forensic area since it has made possible to infer physical characteristics from biological samples and thus direct searches of suspected of crimes and identify victims. Taking into consideration that skin, hair and eyes vary greatly in population, when using this information, it would be possible to its association with a particular individual, or reduce the group to be investigated. This link is further favoured by genetic differences present among different ethnicities. This study aims to evaluate polymorphisms in genes as such MC1R, TYR, ASIP, SLC45A2 and SLC24A5 in the Brazilian population, in order to establish how the prediction of physical characteristics may be significant in a population so mixed, so it can be applied in forensic practice. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

FRIDMAN, CINTIA; SIRIA GODOY CARDENA, MARI MAKI; LIMA, FELICIA DE ARAUJO; GONCALVES, FERNANDA DE TOLEDO. Is it possible to use Forensic DNA phenotyping in Brazilian population?. FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, v. 5, p. E378-E380, DEC 2015. (12/02043-6)

FRIDMAN, CINTIA; FERREIRA, MARCELO ALVES; MARANO, LEONARDO ARDUINO; FORLENZA, BETTINA STINGELIN. Analysis of genetic polymorphisms associated with the presence of freckles for phenotypic prediction. FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, v. 8, p. 3-pg., 2022-12-01. (12/02043-6, 16/03284-8)