Genetic identification with heteroplasmic variations in maternally relatedindividuals in forensic cases

Abstract

Mitochondrial DNA (mtDNA), inherited from the mother, is used in a large variety of areas. In order to evaluate the connection between an incident and the victim or suspect in the analysis of criminal cases, DNA was obtained from buccal swabs sampled from 21 volunteers related through the mother's generation. Using Seqscape (v2.5.5) in an ABI 3100x1 capillary electrophoresis system, mtDNA sequence analyses were performed and compared to the revised Cambridge Reference Sequence. Individual mtDNA variations were detected. In three individuals, point heteroplasmy was observed. The results were evaluated according to the mtDNA typing guidelines established by the International Society for Forensic Genetics DNA Commission. This study can play an important role as a guide in cases of genomic DNA degradation or DNA absence, such as in disaster victim identification, where the genetic identification of an individual is necessary.