先天性尿道下裂与SRY基因关系的探讨

目的 探讨尿道下裂与SRY基因的关系及意义。结果 采用PCR方法对42例先天性尿道下裂患者外周血白细胞进行SRY基因检测。结果 发现2例染色体核型为46，XY患者SRY基因缺失，DNA样品加入EF3、ER3引物及新Taq酶后，PCR反应结果可见332bp的Sox9基因片段，对照46，XY正常成年男性基因组DNA扩增产生436bpSRY基因片段。结论 （1）SRY基因不是性别决定的唯一基因。SRY基因缺失或突变可能导致性发育的一系列异常改变，尿道下裂的发生与SRY的缺失、变异有关。（2）先天性尿道下裂是一种性别发育异常，尿道缺失是性腺发育不全表现。（3）对尿道下裂患者进行SRY基因检测有一定的临床意义。

Detection of SRY gene in hypospadias patients

Objective To investigate the association between SRY gene and the pathogenesis of hypospadias. Methods SRY gene of peripheral blood leukocytes was detected by means of PCR in 42 cases of hypospadias in children. Results SRY gene has been negative in 2 cases of boys with hypospadias,their chromosome type being 46,XY.When lead-matter EF3,ER3 and Taq enzyme were added to their DNA samples,332 bp of Sox gene segments were observed on PCR;Whereas,in 46,XY normal males,436 bp SRY gene segments were observed on gene DNA amplification. Conclusions The absence or mutation of SRY gene may be concerned with the pathogenesis of hypospadias which is a sex upgrowth abnormality.So,detection of SRY gene may play an important role in the study of hypospadias.As SRY is not the only gene in ascentaining of sex,some other genes may be also concerned with hypospadias.