Study on mitochondrial heteroplasmy in related and unrelated individuals

线粒体DNA的两个高变区在法医应用中正变得越来越常用，以区分群体中的个体。这种分析在涉及毛干和骨骼残骸等证据的情况下以及在孕妇测试中尤其有用。异质性是指同一个体存在两种或两种以上不同序列或长度的线粒体单倍型的情况。线粒体DNA控制区的高变区1和区2从无血缘关系的个体和母子配对中获得的血液和头发中进行了测序。同一个体内的异质性在个体和母子对之间存在差异。在同一个体内发现10个个体的异质性差异，所有这些差异都在毛干样本中观察到。对这两个江户时代遗迹的毛干进行线粒体DNA控制区HV1和HV2的直接测序。我们分析了编码区的多态位点，以了解地理起源或种族。两个样本有10400个突变，提示这两个样本是现代日本M型。

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.