尿道下裂患者SOX9基因突变的研究  

Mutation analysis of SOX9 gene in patients with hypospadias

作　　者：徐家杰[1] 范巨峰[2] 李森恺[1] 李强[1] 滕利[1] 冯国平[1] 靳小雷[1] 季滢[1] 王艳萍[3] 沈岩[3] 

机构地区：[1]中国医学科学院中国协和医科大学整形外科医院整形五科,北京100041 [2]北京朝阳医院整形外科 [3]中国医学科学院中国协和医科大学基础所生化和分子生物学实验室

出　　处：《中国美容医学》2008年第2期238-239,共2页Chinese Journal of Aesthetic Medicine

基　　金：卫生部临床学科重点项目基金(编号:20010409)

摘　　要：目的:探讨SOX9基因在尿道下裂发病中的作用。方法:收集96例先天性尿道下裂患者外周静脉血,提取DNA,采用PCR扩增直接测序的方法检测SOX9基因全部外显子序列。结果:在实验组尿道下裂患者和对照组的SOX9基因外显子片段中,我们未发现任何位点的突变。只是在外显子3的3'UTR发现了1个SNPA/C,经分析没有统计学意义。结论:SOX9基因在性别分化的初期起作用,其变异直接影响性别取向,结果导致两性畸形或性反转,而非单纯性尿道下裂。Objective To explore possible molecular mechanism of hypospadias and relationship of the mutation of SOX9 gene to hypospadias. Methods 96 blood samples from the patients with hypospadias were obtained and DNA was estracted from blood leukocytes. Polymerase chain reaction and direct sequencing were performed to analyze the coding regions of SOX9 gene. Results No mutation was detected from test and control group. One SNP A/C was found on 3＇UTR of exon 3 which is no significant difference between test and control group. Conclusion The influence of SOX9 gene was on the early period of sexual differentiation. Mutation of this gene may result hermaphroditic deformity or sex reversal, not simple hypospadias.

关 键 词：尿道下裂 SOX9基因 基因突变 

分 类 号：R695[医药卫生—泌尿科学]