Study of association of polymorphisms in MC1R gene with skin and hair pigmentation for forensic purposes

• Grant number: 12/01079-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2012
• End date: December 31, 2012
• Field of knowledge: Health Sciences - Medicine - Legal Medicine and Deontology
• Principal Investigator: Cintia Fridman Rave
• Grantee: Eliza Maria Rodrigues Fortes Almeida
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

The skin pigmentation in human is widely variable between individuals, especially due tomelan in which synthesis is under genetic control. The two main types of this polymer are pheomelan in, responsible for lighter pigmentation, and eumelanin, related to the dark pigmentation. The main genes involved in pigmentation are the MC1R, ASIP and OCA2, and their polymorphisms have been highly studied with the goal to predict physical characteristics, mainly because of their relationship with specific populations. The variations already described in MC1R are considered the largest contributors to the diversity of skin and hair pigmentation in human. The phenotype prediction by means of genetic information comes benefiting the forensic area in several countries, because through this method has been possible to infer physical traits from biological samples and thus direct searches of criminal suspects. Taking into consideration that skin and hair vary greatly in population, with this information, it would be possible its association with a specific person or reduce the group to be investigated. It has been demonstrated in several populations that the analysis of polymorphisms in MC1R gene allows correct inference of pigmentation in more than 90% of the times. This fact is even more favored by genetic differences present between different ethnic groups. Therefore, this study aims to evaluate the power of prediction of characteristics such as skin color and hair, from polymorphisms in gene MC1R in a sample of the Brazilian population.