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目的 探讨尿道下裂与SRY基因的关系及意义。 方法 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。
Objective To investigate the relationship between hypospadias and SRY gene and its significance. Methods 42 cases of congenital hypospadias by peripheral blood leucocytes were detected by PCR. The results showed that the karyotype of 2 chromosomes was 46 and the deletion of SRY gene was found in XY patients. The results of PCR showed that the Sox9 gene fragment of 332bp was amplified by PCR with EF3, ER3 primer and new Taq enzyme. The genomic DNA of normal male 46 and XY male A 436 bp pSRY gene fragment was generated. Conclusions (1) SRY gene is not the only sex-determining gene. The deletion or mutation of SRY gene may cause a series of abnormal changes in sexual development. The incidence of hypospadias is related to the deletion and mutation of SRY. (2) congenital hypospadias is a genital dysplasia, urethral failure is the performance of gonadal hypoplasia. (3) SRY gene detection in patients with hypospadias has certain clinical significance.