Copy number variations and congenital anomalies of the kidney and urinary tract
10.3760/cma.j.issn.1673-4408.2020.03.009
- VernacularTitle:基因拷贝数变异与先天性肾脏和尿路畸形的研究进展
- Author:
Yaxin LI
1
;
Qian SHEN
Author Information
1. 复旦大学附属儿科医院肾脏科 上海市肾脏发育和儿童肾脏病研究中心 201102
- From:
International Journal of Pediatrics
2020;47(3):184-188
- CountryChina
- Language:Chinese
-
Abstract:
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.
