Sequencing data for HV1 and HV2 mtDNA regions in mother-child samples

Introduction: MtDNA analysis is relevant for forensic identity testing as well for human evolution studies. Due to maternal inheritance, lack of recombination, high number of copies for cell, high mutation rate and high polymorphic density, the mtDNA hypervariable regions HV1 and HV2 are well suited for forensic identification using a maternal relative as reference sample. Materials and methods: In order to determine the frequency and the type of mutation between two generations, we investigated uniparental mtDNA inheritance in 50 mother-child pairs through the analysis of the HV1 and HV2 sequences. Results: Preliminary results show that most maternal relatives share identical mtDNA sequences, and neomutation rate seems to be very low from one generation to another. These data confirm the importance and the utility of mtDNA, allowing comparison of family members who share a common matrilinear ancestry and providing the basis for identification and maternal relationship both in biological evidence and in living individuals.