Sequence Analysis of Mitochondrial DNA Hypervariable Regions: An Approach to Personal Identification

Background ondrial DNA (mtDNA) sequence analysis of the hypervariable control region has been shown to be an effective tool for personal identification. The high copy and maternal mode of inheritance make mtDNA analysis particularly useful when old samples or degradation of biological samples prohibits the detection of nuclear DNA analysis. s tudy reports mtDNA polymorphisms in both HV1 and HV2 of the non-coding D-loop region from 30 Iranian persons (10 unrelated families in three sequential maternal generations). s one polymorphic nucleotide positions were found, 32 in HV1 and 49 in HV2. The sequence of HV1 and HV2 and the occurred polymorphism were completely similar in each family, except for heteroplasmy in five positions in HV2. The average numbers of nucleotide differences between families were 5.2 nucleotides in HV1 and 2.8 nucleotides in HV2. sions ect eight nucleotide differences in sequence of both HV1 and HV2 in two unknown, unrelated Iranian samples.