男性不育症患者RBM、DAZ基因检测的临床意义

The clinical significance of DAZ and RBM gene detection in male infertility

目的 探讨男性不育症与RBM、DAZ基因的关系及意义。方法 应用PCR技术对 50例无精子症和严重少精子症患者 (其中无精子症 38例 ,严重少精子症 1 2例 )的外周血细胞进行RBM、DAZ基因检测。结果 50例中发现 6例有DAZ基因微缺失 (无精子症 4例 ;严重少精子症 2例 ) ,其中 2例合并RBM基因微缺失 (无精子症和严重少精子症各 1例 ) ;1例无精子症仅有RBM基因微缺失 ;SRY基因PCR扩增均为阳性。 50例已有生育的正常男性均无RBM及DAZ基因的微缺失。结论 RBM和DAZ为无精子因子 (AZF)的重要候选成分 ,RBM及DAZ微缺失是引起无精子和严重少精子并造成男性不育的重要原因之一。对男性不育症患者进行RBM及DAZ基因检测有一定临床意义。

Objective To investigate the association between RBM,DAZ gene and male infertility.Methods RBM and DAZ gene of peripheral blood leukocytes were detected by PCR technique in 38 azoospermia and 12 severe oligozoospermia patients.Results Among the 50 paitnets there had been found six patients with DAZ microdeletion,including 4 azoospermia and 2 severe oligozoospermia;3 of the six developed RBM microdeletion simultaneously,including one azoospermia and one severe oligozoospermia;one patient with azoospermia only with RBM microdeletion;the deletion of SRY region had not been found.The deletion of DAZ and RBM region were not found in 50 normal subjects with offsprings.Conclusion RBM and DAZ genes are one of the important candidates for azoospermia factor (AZF).Microdeletion on RBM and DAZ is a major cause of azoospermia and severe oligozoospermia leading to male infertility.So,detection of RBM and DAZ genes may play an important role in the study of male infertility. [