Analysis of mitochondrial DNA polymorphismis in the population of Espírito Santo State for application on human identification

Abstract

DNA human identification is one of the most revolutionary products of Modern Genetics and becoming an important 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 their parents. These markers are usually differences in nuclear DNA sequences (polymorphisms) among individuals. In some cases, where the analysis of nuclear DNA can not be applied, the most successful alternative is the polymorphisms on mitochondrial DNA (mtDNA). Most laboratories use typing the mtDNA polymorphisms in noncoding region (also known as the control region, hypervariable, or D-loop). However, nowadays, the coding region has been not widely used for forensic analysis even though fifteen times greater than the control region, where there is great variation in the sequence, and which may be of interest to classify the population studied in different haplogroups. Thus, the purpose of this work is to continue the project (process FAPESP 2012/17220-5), analyzing 30 SNPs in samples of individuals living in the State of Espírito Santo, to better complement the classification into haplogroups obtained by sequencing of the control region. Such information may be useful in forensic cases. (AU)