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线粒体是一种拥有自身遗传体系的半自主细胞器,它的遗传物质线粒体DNA(mitochondrial DNA,mt DNA)随着人类的迁移、隔离、进化而形成了广泛的线粒体基因组多态性,同一祖先所具有的一些相同mt DNA SNP位点的集合称为线粒体单体型.不同的线粒体单体型会在一定程度上影响线粒体功能,从而影响整个细胞的生长,并在某些情况下导致一些个体的病变,例如Leber遗传性视神经病变、母系遗传性耳聋、Ⅱ型糖尿病、帕金森以及各种癌症等复杂疾病.本文列举总结了几种线粒体相关疾病及其与线粒体单体型如A、B、D、F、G、H、J、K、M、N、T、U、Y及一些有特点的多态位点如G11778A、A1555G、T3394C、G10398A等的相关性.
Mitochondria is a semi-autonomous organelle with its own genetic system. Its mitochondrial DNA (mtDNA) forms a wide range of mitochondrial genome polymorphisms with the migration, isolation and evolution of human beings. The same ancestor has The collection of some of the same mt DNA SNP sites is called mitochondrial haplotype, and different mitochondrial haplotypes affect mitochondrial function to some extent, affecting the growth of the entire cell and, in some cases, some individual lesions , Such as Leber’s hereditary optic neuropathy, maternal hereditary deafness, type II diabetes, Parkinson’s disease and various cancers.In this paper, several mitochondria-related diseases and their relationship with mitochondrial haplotypes such as A, B, D, F, G, H, J, K, M, N, T, U, Y and some characteristic polymorphic sites such as G11778A, A1555G, T3394C, G10398A and so on.