Study on mitochondrial heteroplasmy in related and unrelated individuals

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The two hypervariable region of mitochondrial DNA are becoming more commonly used in forensic applications to differentiate individuals in a population. This analysis is particularly useful in cases involving evidence such as hair shafts and skeletal remains and in maternity testing.Heteroplasmy is the condition where two or more mitochondrial haplotypes, differing by sequence or length, are present in the same individual. The hypervariable region 1 and region 2 of the mitochondrial DNA control region were sequenced in blood and hair shafts obtained from unrelated individuals and mother-offspring pairs. Differences of heteroplasmy within the same individual were found in individuals and mother-offspring pairs. Differences of heteroplasmy within the same individual were found in 10 individuals, and all of these differences were observed in hair shaft samples.Direct sequencing of mitochondrial DNA control region HV1 and HV2 were performed on hair shafts of these two remains of Edo era. We analyzed polymorphic sites in coding region to know geographic origin or race. Two samples have 10400 mutation and it suggests the samples are modern Japanese type M.