CAJ | 학술논문

泌尿生殖系统先天畸形系发生率较高的儿科疾病之一,对其分子机制的深入研究将有助于揭示人类泌尿生殖系统疾病的发生机制,并为早期基因诊断及遗传咨询提供依据.该文对多囊肾、尿道下裂、隐睾、先天性输精管缺如相关基因研究的最新进展进行综述.
비뇨생식계통선천기형계발생솔교고적인과질병지일,대기분자궤제적심입연구장유조우게시인류비뇨생식계통질병적발생궤제,병위조기기인진단급유전자순제공의거.해문대다낭신、뇨도하렬、은고、선천성수정관결여상관기인연구적최신진전진행종술.
Congenital malformation of genitourinary system is one group of most commonly seen pediatric diseases.Molecular genetic research has increased the understanding of their mechanisms and provided the foundation for gene diagnosis and genetic counseling.In this article,latest advance is reviewed on genes associated with polyeystic kidney disease,hypospadia,cryptorchidism and congenital absence of vas deferens.