Padronização em Multiplex com Marcadores Moleculares de Cromossomo Y para Estudos de Ancestralidade

Abstract

The Y chromosome markers are widely used in different areas of genetics. This chromosome is specific for studies of patrilineal ancestry. Because it is a chromosome that 95% of its composition does not undergo recombination, one of the few ways of it to suffer variations is trough bialectic mutations of a single nucleotide polymorphism (SNPs). The SNPs mutation rate is realy small, so they can be used as good markers for ancestry. Ancestry studies with SNPs for chromosome Y (Y-SNPs) collaborate for the construction of the phylogeny of the chromosome and human migration patterns. Thanks to the numerous studies in the anthropological genetics field, its already possible to know the genetic patterns of the populations and “track” the evolutionary rout that the human being did. For us to know where we came from this patterns were separated in haplogroups. An aplogroup is the genetic population of people that share a common patrilinear or matrilinear ancestor, this groups receive alphabet letters for identification, and the refinements consists in combinations of numbers and additional letters. With this studies, combined with colonization and migration ones, it’s expected that there will be a certain frequency of specific haplogroups The aim of this study was to standardize multiplex with Y-SNPs of the haplogroups R1, Q, R, F, J2 and K, relevant to the population of the State of Santa Catarina. Polymerase Chain Reaction (PCR) and 10% polyacrylamide gel electrophoresis techniques were used to reach these objectives, focusing mainly on the standardization of the PCR technique for the primers used, resulting in a large number of protocols tested, each Which with its intention of use and technical direction. The standardization of multiplex markers of these specific groups is a basic work of extreme relevance for future studies aimed at a better understanding of who we are, where we come from and where we are in the phylogenetic tree.