线粒体DNA拷贝数变异机制研究进展

前人关于线粒体遗传性疾病已进行了大量的研究。近年来,有关线粒体DNA突变与肿瘤发生关系的研究吸引了众多研究者的兴趣,前者有可能成为一种新的肿瘤标记物。除了对常规的单碱基突变(单核苷酸多态性)和大片段缺失或重排进行检测外,细胞器内线粒体DNA数量的变化作为突变的一个重要方面则往往为研究者所忽略。本文对影响线粒体基因组复制及拷贝数变化的因素和对线粒体DNA拷贝数变化在肿瘤发病机制研究中的意义进行了综述。

Factors affecting the variation of copy number of mitochondrial DNA

Diseases related to mitochondrial DNA have been studied for several years.Recently,the relations between mtDNA mutation and tumorigenesis had attracted many researchers and the former may became a new marker of tumors.Besides regular single base mutations(SNPs) and large fragment deletions or rearrangement,variation of the numbers of mtDNA molecules in organelles was always neglected by most investigators.This paper reviews the factors involving the replication of mitochondrial genome and discusses the usage of detecting the variation of mtDNA copy number in the study of tumorigenesis.