全外显子测序在糖尿病肾病中的应用  

Application of whole exon sequencing in diabetic kidney disease

作　　者：刘泽慧 杨梦茹 马莎[1] 马强 韩睿[1] LIU Zehui;YANG Mengru;MA Sha;MA Qiang;HAN Rui(The Second Department of Endocrinology,the First Affiliated Hospital of Kunming Medical University,Yunnan Province Kunming,650000,China)

机构地区：[1]昆明医科大学第一附属医院内分泌二科,云南昆明650000

出　　处：《中国医药导报》2023年第13期37-40,共4页China Medical Herald

基　　金：国家自然科学基金资助项目(81960157);云南省科技厅科技计划项目[2019FE001(-006)];云南省卫生健康委员会医学领军人才培养计划项目(L-2019015);昆明医科大学科技创新团队建设项目(CXTD2020xx)。

摘　　要：糖尿病肾病(DKD)作为糖尿病最常见的并发症之一,是以微血管损伤为特征的肾功能损害,是导致终末期肾脏衰竭的首位病因,但其具体发生发展机制复杂。临床和流行病学表明,DKD在不同种族群体中存在家族聚集性,表明遗传因素参与了疾病的进展。全外显子测序(WES)包括对人类基因组中所有外显子的捕获、测序和分析。本文旨在总结WES在DKD中的最新进展,期待为未来的临床诊治开发新的靶点。Diabetic kidney disease(DKD),as one of the most common complications of diabetes mellitus,which is characterized by microvascular damage of renal dysfunction.DKD is the first cause of end stage renal failure,but its specific occurrence and development mechanism is complex.Clinical and epidemiological evidence shows that DKD has familial aggregation in different ethnic groups,suggesting that genetic factors are involved in the progression of the disease.Whole exon sequencing(WES)includes the capture,sequencing,and analysis of all exons in the human genome.This paper aims to summarize the latest progress of WES in DKD,hoping to develop new targets for future clinical diagnosis and treatment.

关 键 词：糖尿病肾病 全外显子测序 靶向治疗 精准医学 

分 类 号：R587.25[医药卫生—内分泌]