Polymorphisms analysis of Mitochondrial DNA (maternal inheritance) and y chromosome (paternal inheritance) in individuals living in Espírito Santo State, Brazil

Abstract

Human identification through DNA analysis uses the idividual genetic profile based on the study of a combination of markers that are inherited from their parents. The main genetic markers are present in the autosomes, sex chromosomes and mitochondrial DNA (mtDNA). Aiming to expand the the Brazilian population data relatively to genetic markers, this project aims to identify the major haplogroups of mitochondrial DNA and Y chromosome existing in the population of Espirito Santo, evaluating the contributions of Africans, Amerindians and Europeans in maternal and paternal heritage and study the frequency of the haplotypes of the mtDNA hypervariable region. For this purpose, we will analyze 30 SNPs of mtDNA and nine Y-SNPs in samples from individuals living in the State of Espirito Santo (ES), to classify the major haplogroups of each marker. Genotyping will be performed by PCR followed by minisequencing (SNaPshot Multiplex) and detection by capillary electrophoresis. The classification into the different mtDNA haplogroups will be generated from the results of the SNPs analysis in the coding region using SNaPshot and complemented by the classification based on the results of sequencing the control region, and both based on Phylotree.org. Calculations of diversity index in the samples will be performed using the software Arlequin v 3.1. The frequencies of Y chromosome haplogroups and the proportions of contribution from Europeans, Africans and Amerindians in the ES population will be determined by direct counting method. The diversity of haplogroups, genetic distance (Fst) and analysis of molecular variance (AMOVA) will be established using the software Arlequin v.3.1. (AU)