基因拷贝数变异与先天性肾脏和尿路畸形的研究进展

Copy number variations and congenital anomalies of the kidney and urinary tract

基因拷贝数变异(copy number variations,CNV)作为基因组结构变异的重要组成部分,包括DNA片段缺失、插入、重复和复杂多位点改变等多种变异形式。研究表明CNV与多种疾病的发生密切相关,如遗传代谢疾病、神经发育疾病、肿瘤等。随着基因芯片及基因测序等技术的飞速发展,人们在先天性肾脏和尿路畸形病人中发现了大量CNV,是先天性肾脏和尿路畸形(congenital anomalies of kidney and urinary tract,CAKUT)病因的重要组成之一。该文就基因CNV的概念、突变机制、致病机制、检测方法在先天性肾脏和尿路畸形领域的进展作一综述。

Copy number variations(CNV)is an important part of genomic structural variation,including deletions,insertions,duplications and complex multi-site variants of DNA.Numerous studies have shown that CNV is closely related to diseases,such as congenital metabolic disease,neuro-developmental disease,and cancers.With the development of arrays and sequencing technology,a large number of CNV have been found in patients with congenital anomalies of the kidney and urinary tract(CAKUT).CNV has been found to be an important component of the patient′s cause.This review mainly discusses the definition of CNV,the mutation mechanisms,the detection techniques and the pathogenesis of CAKUT.