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DNA拷贝数变异(CNVs)是指与基因组参考序列相比,DNA片段大小范围从kb到Mb的亚微观突变。近年来CNVs作为一种新的疾病易感标志的DNA多态性,其变异引起的基因剂量改变可导致表型的改变,且与很多疾病的发病机制有关,尤其是神经系统疾病,已成为当今研究的热点。本文就CNVs与神经系统疾病的研究进展进行综述,以期为深入研究这类复杂性疾病发病的分子机制和遗传基础提供参考。
DNA copy number variation (CNVs) refers to submicroscopic mutations in DNA fragments ranging in size from kb to Mb as compared to the genomic reference sequence. In recent years, DNA polymorphisms of CNVs, as a new marker of disease susceptibility, have been implicated in the alteration of gene dosage caused by mutation. Phenotypic changes of CNVs have been linked with the pathogenesis of many diseases, especially nervous system diseases, Hot research. This review summarizes the research progress of CNVs and neurological diseases in order to provide a reference for further study on the molecular mechanisms and genetic basis of the pathogenesis of such complex diseases.