尿道下裂的遗传学进展  

Genetic advances of hypospadias

作　　者：高可欣 汪亚平 谢华 陈方[1] 陈仲中 Gao Kexin;Wang Yaping;Xie Hua;Chen Fang;Chen Zhongzhong(Department of Urology,Shanghai Children's Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai,200062,China.)

机构地区：[1]上海交通大学医学院附属儿童医院,上海市儿童医院泌尿外科,上海200062

出　　处：《中华小儿外科杂志》2024年第2期169-175,共7页Chinese Journal of Pediatric Surgery

基　　金：国家自然科学基金(81970572)。

摘　　要：尿道下裂的全球发病率约为千分之二,是男性生殖系统中最常见的复杂先天性疾病之一。尿道下裂受遗传因素和环境因素共同作用。遗传是尿道下裂的主要病因,其遗传度约为57%~77%,但仅约30%的患儿获得了明确的遗传分子诊断。目前,已知数十个基因的遗传变异与尿道下裂风险相关,同时针对部分候选基因进行了小鼠模型研究,但尿道下裂的遗传病因仍不清楚。本研究就尿道下裂的遗传风险基因、动物模型、分子调控机制以及最新的技术进展进行总结和概述,以加深对尿道下裂发病机制的认识,从而为尿道下裂的预防和诊治提供新的参考方案。Occurring in approximately 2 per 1000 births,hypospadias is the most common congenital disease of male uro-genital system.It is affected by both genetic and environmental factors.Genetic plays a dominant etiological role in hypospadias and heritability varies between 57 and 77%.However,only around 30%of patients harbored the evidence of molecular genetics.Although genetic variants of dozens of genes are associated with the risk of hypospadias,as well as evidence from murine model studies,genetic etiology of hypospadias has remained largely elusive.This review focused upon hypospadias-related genes,murine models,molecular mechanisms and advanced technologies for gaining a deeper etiological understanding of hypospadias and providing new rationales for its preventions and interventions.

关 键 词：尿道下裂 遗传学 小鼠模型 二代测序 

分 类 号：R726.9[医药卫生—儿科]