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. | Turkish Journal of Biology Research Article Turk J Biol (2016) 40: 694-698 © TÜBİTAK doi: Genetic identification with heteroplasmic variations in maternally related individuals in forensic cases Ayşen TEZEL*, Ömer ÇETİNKAYA, Burçak GÜZELTEPE, Nurgül KILIÇ Gendarmerie Criminal Laboratories, Ankara, Turkey Received: Accepted/Published Online: Final Version: 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 () 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. Key words: mtDNA, heteroplasmy, control region, variations, forensic 1. Introduction Mitochondrial DNA (mtDNA) sequence analysis may be used as a tool for forensic identification (Salas et al., 2001). The identification of victims of mass disasters or murders, whose bodies have remained undiscovered for many years, is one of the most challenging cases in forensic science. mtDNA analysis can be used effectively in cases where the victims and their living descendants are separated by many generations. Interindividual variation in human mtDNA is concentrated in the control region (D-loop .
