尿道下裂患者SRD5 A2基因突变的研究  

Mutation analysis of SRD5A2 gene in patients with hypospadias

作　　者：徐家杰[1] 李森恺[1] 李强[1] 范巨峰[1] 王艳萍[2] 李养群[1] 沈岩[2] 

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,北京100041 [2]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：《中华整形外科杂志》2006年第2期139-141,共3页Chinese Journal of Plastic Surgery

基　　金：卫生部临床学科重点项目基金(20010409)

摘　　要：目的探讨SRD5A2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SRD5A2基因全部外显子序列。结果96例中有14例发现了8种突变,5种错义突变,1种同义突变,1种无义突变,1种移码突变。分别位于第1、4、5外显子。其中Gln6stop,His232His,Phe234Leu及移码突变没有报道过。结论第4外显子是突变发生的热点区域,约110尿道下裂患者存在不同程度的SRD5A2基因结构异常。Objective To explore possible molecular mechanism of hypospadias and relationship of the mutation of SRD5A2 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 SRD5A2 gene. Results 8 mutations were detected from 14 cases, including 5 missense mutations, 1 synonymous mutation, 1 nonsense mutation and 1 frameshift mutation. The mutations are in 1st, 4th and 5th exon. Gln6stop, His232His, Phe234Leu and frameshift mutations are novel. Conclusions Exon 4 is a hot spot region of mutation within SRD5A2 gene, and about 10 percent of hypospadiac patients complicated with SRDSA2 dysfunction or deficiency.

关 键 词：尿道下裂 SRD5A2基因 基因突变 

分 类 号：R695[医药卫生—泌尿科学]