Study of complete mitochondrial DNA diversity in sample of Brasília population by massively parallel sequencing

• Grant number: 18/24739-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2019
• End date: February 28, 2021
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Regina Maria Barretto Cicarelli
• Grantee: Natalia Carolina Andrekenas
• Host Institution: Faculdade de Ciências Farmacêuticas (FCFAR). Universidade Estadual Paulista (UNESP). Campus de Araraquara. Araraquara , SP, Brazil

Abstract

Human identification from DNA is one of the most revolutionary products of modern genetics, becoming an indispensable tool in criminal investigation; this identification is based on the genetic profile of an individual, through the combination of several markers that are inherited from his progenitors. These markers are generally differences in nuclear DNA sequences between individuals (polymorphisms). In some cases, where nuclear DNA analysis cannot be applied as a successful alternative, mitochondrial DNA analysis (mtDNA) is used. Most forensic laboratories using mtDNA typing are based only on the polymorphisms present in the nucleotide sequence in the non-coding region (also known as the control region, hypervariable or D-loop); however, the coding region is fifteen times larger than the control region, and it is where much of the genetic variation of the genome occurs. This project will present the study of complete mtDNA sequences carried out using Next Generation Sequencing (NGS) or, more recently, Massive Parallel Sequencing (MPS) in unrelated individuals from Brasília, country's federal capital, evaluating the diversity of this DNA in the Brazilian population, besides the possible identification of new genetic variations, until now unknown in this genome.