[线粒体DNA:性质和应用]。

R Kefi-Ben Atig, S Hsouna, E Beraud-Colomb, S Abdelhak
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引用次数: 0

摘要

线粒体是细胞内负责产生细胞能量的细胞器。它们在调节细胞代谢、细胞凋亡和氧化应激控制中起重要作用。线粒体DNA (mtDNA)因其在细胞内的高拷贝数、母系遗传和高突变率等特点,吸引了许多领域的科学家。在人类学遗传学中,mtDNA可用于追踪遗传变异的地理分布,用于研究基因扩展、迁移和其他模式的基因流动。mtDNA在法医学中有着广泛的应用。它是鉴别遗体的有力工具。mtDNA的特点是多态性和突变率高。其中一些被越来越多地认为是人类病理的重要原因,如氧化磷酸化(OXPHOS)疾病、母系遗传性糖尿病和耳聋(MIDD)、2型糖尿病、神经退行性疾病、心力衰竭和癌症。
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[Mitochondrial DNA: properties and applications].

Mitochondria are the intracellular organelle responsible for the production of cellular energy. They play an important role in the regulation of cellular metabolism, apoptosis and oxydative stress control. Mitochondrial DNA (mtDNA) has many special features such as a high copy number in cell, maternal inheritance, and a high mutation rate which have made it attractive to scientists from many fields. In anthropological genetics, mtDNA is useful to trace geographic distribution of genetic variation, for the investigation of expansions, migrations and other pattern of gene flow. mtDNA is widely applicated in forensic science. It is a powerful implement to identify human remains. mtDNA is characterized by the high rate of polymorphisms and mutations. Some of which are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, maternally inherited diabetes and deafness (MIDD), Type 2 diabetes mellitus, neurodegenerative disorders, heart failure and cancer.

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