中国实用儿科杂志2012，Vol.27Issue(9)：693-696,4.
52例尿道下裂患者5α-还原酶2型基因突变研究
Analysis of 5α-reductase-2 gene mutation in 52 patients with hypospadias
王瑞芳 1陈凤生 1王德芬 1董治亚 1王伟 1沈丽萍 2肖园 1王秀民 1陆文丽 1孙文鑫 1倪继红1
作者信息
- 1. 上海交通大学医学院附属瑞金医院儿内科,上海200025
- 2. 上海交通大学医学院附属瑞金医院儿外科,上海200025
- 折叠
摘要
Abstract
Objective To investigate the prevalences of SRD5A2 gene mutation in Chinese children with hypospadias and explore the possible molecular mechanism of the disease. Methods Totally 52 children with hypospadias were enrolled from January 1st, 2006 to December 1st, 2011, the clinical characteristics were observed, and assistant examinations were performed. Polymerase chain reaction (PCR) and direct sequencing were performed to analyze the 1-5 exons of SRD5A2 gene. Results SRD5A2 gene mutations were found in 13.5%(7/52)of patients. Four mutational sites were detected from 7 patients, including 5 compound heterozygous mutations (p.G203S/p.R227Q, p.L20P/p.R227Q, p. L20P/p.R227Q,p.L20P/p.G203S,p.R227Q /p.R246Q)and 2 homozygous mutations(p.R227Q and p.L20P). Conclusion The mutation of SR5DA2 gene may be a frequent cause of hypospadias in Chinese children. Molecular analysis of SRD5A2 gene should be performed before gender assignment or any surgical intervention for better prevention and treatment of hypospadias.关键词
尿道下裂/SRD5A2基因/基因突变Key words
hypospadias/ SRD5A2 gene/ gene mutation分类
医药卫生引用本文复制引用
王瑞芳,陈凤生,王德芬,董治亚,王伟,沈丽萍,肖园,王秀民,陆文丽,孙文鑫,倪继红..52例尿道下裂患者5α-还原酶2型基因突变研究[J].中国实用儿科杂志,2012,27(9):693-696,4.
