Study of complete mitochondrial DNA diversity in samples of São Paulo and Espírito Santo States populations by massively parallel sequencing

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 the São Paulo and Espírito Santo states, evaluating the diversity of this DNA in the Brazilian population, besides the possible identification of new genetic variations, until now unknown in this genome. (AU)