Using mitochondrial DNA in human identification

Abstract

Mitochondrial DNA (mtDNA) has been employed for human identification in forensic caseworks since 1996. High copy number and uniparental inheritance are some of the advantageous characteristics of mitochondrial DNA (mtDNA) that yields useful results in degraded samples that fail to generate successful nuclear DNA (nuDNA) profiles. Presently, analysis of autosomal short tandem repeats (STR) is utilized for genetic fingerprinting in forensic caseworks. However, majority of the samples from skeletal remains of deceased persons encountered in caseworks such as mass disaster exposed to high temperature and harsh environment conditions are highly degraded. The mitochondrial DNA (mtDNA) profiling in addition to nuclear DNA in disaster victim and archaeological ancient samples establish the human identification. The mitochondrial DNA being a maternally inherited marker plays a crucial role in establishing phylogenic ancestry. Also, the mitochondrion being powerhouse of the cells plays a crucial role in human ageing and is an excellent marker for age estimation. In this chapter, the structure and function of the mitochondrial genome, its inheritance pattern and transmission, application in forensic caseworks, data interpretation in mtDNA casework and population data basing, and future perspectives have been discussed.