Mitochondrial DNA profiling in combination with autosomal loci as a valuable tool for obtaining statistical significance in forensic cases

Abstract

The majority of forensic casework utilizes DNA markers of the nuclear genome such as short tandem repeats (STRs) scattered throughout the non-coding regions of autosomal or sex chromosomes. However, there are some scenarios in which the analysis of nuclear DNA markers is impossible or impractical, or not sufficient for statistical calculation of the results. In number of such cases, mitochondrial DNA (mtDNA) analysis has proven to be a valuable tool. Several characteristics such as high level of polymorphisms, multiple copies of the mtDNA genome in each cell and maternally inheritance make it useful in forensic genetic analysis. Mitochondrial DNA profiling is mainly used in human identification and in the analysis of crime scene samples when conventional DN analysis is difficult. In identifying human remains sometimes it may be possible to obtain large amount of nuclear DNA suitable for profiling, but there may be not suitable relative with whom to compare, so statistical calculation for the results of analyzed nuclear markers (STRs) may be not sufficient for statistical significance.