新一代测序技术在局灶节段性肾小球硬化遗传学研究中的应用

Applications of new generation sequencing in the genetic study of focal segmental glomerulosclerosis

局灶节段性肾小球硬化(FSGS)是我国常见的肾小球疾病之一。近年来,新一代测序技术的出现和发展已广泛应用于基因突变检测、SNP测定和连锁分析,其具有高通量、费用相对低等优势,是研究FSGS遗传学发病机制的良好方法,并为临床遗传学诊断提供了有利的依据。本文对新一代测序技术在家族性FSGS中的研究进展及前景进行综述。

Focal segmental glomerulosclerosis is one of the most important glomerular diseases in China. In recent years,next-generation sequencing technologies have been improving as high-throughput and cost-effective approaches to detect gene mutation,SNP and do linkage analysis. And it has become a good tool to fulfill medical diagnosis and research demands for familial focal segmental glomerulosclerosis. In this review,we describe the development of next-generation sequencing in genetic research of familial focal segmental glomerulosclerosis and discuss the implementation of this novel technology in identified new causal genes.