线粒体基因组是细胞内惟一独立于细胞核染色体之外的遗传物质。由于受精卵的线粒体几乎全部来源于卵细胞,线粒体基因突变所致疾病呈母系遗传,即女性患者的子女均可能从母亲一方遗传获得致病基因而患病,而男性患者的子女理论上均不得病。1981年Anderson等[1]发表了人类线粒体DNA The mitochondrial genome is the only genetic material in the cell that is independent of the nuclear chromosome. Because the mitochondria of fertilized eggs are almost entirely derived from egg cells, the disease caused by the mutation of mitochondrial gene is maternally inherited, that is, the female patients may suffer from the genetic inheritance of the disease from one side of the mother and the children of the male patients may not theoretically get the disease . Anderson et al [1] published human mitochondrial DNA in 1981