HUMAN MITOCHONDRIAL DNA CHARACTERIZATION AND ITS APPLICATIONS
*Sikandar Hayat, Tanveer Akhtar and Muhammad Hassan Siddiqi
Human mitochondrial DNA (mtDNA) has become a valuable tool in forensic studies. Its polymorphic nature and maternal inheritance are features that have supported investigators to identify missing persons, war losses and individuals tangled in mass disasters and criminal cases. Several unique properties of human mitochondrial DNA (mtDNA), including its high copy number, maternal inheritance, lack of recombination and high mutation rate have made it the molecule of choice for studies of human population history and evolution. Analysis of hypervariable segments of mitochondrial DNA (mtDNA) are presently being used for forensic analysis, human molecular genetics, evolutionary biology, human relocation studies and in identifying late persons. Mitochondrial DNA analysis offers a unique maternal ancestral view of an individual’s molecular pin code, through typically examining the hypervariable segments and sampling the areas of hypervariable region 1 (HV1), hypervariable region 2 (HV2) and hypervariable region 3 (HV3). The objective of this study is to examine the utility of mtDNA typing in forensics through the analysis of a forensically related population.
Keywords: hypervariable, haplogroup, recombination, maternal inheritance, mutation rate.
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