男性特发性不育症与RBM基因关系的探讨

Detection of RBM gene in male patients with idiopathic infertility

目的:探讨男性不育症与RBM基因的关系及意义。方法:应用PCR技术对30例无精子症和严重少精子症患者(其中无精子症22例,严重少精子症8例)的外周血细胞进行RBM基因的检测。结果:30例中发现6 例有RBM基因微缺失(无精子症4例,严重少精于症2例)。30例已有生育的正常男性均无RBM基因微缺失。结论:RBM是无精子因子的重要候选成分,RBM基因微缺失有可能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基因检测有一定的临床意义。

Objective:To investigate the association between RBM gene and the patients with idiopathic azoospermia and severe oligozoospermia. Methods: RBM gene in peripheral blood leukocytes was detected by PCR technique in 22 patients with azoospeimia and 8 patients with severe oligozoospermia. Results: RBM microdeletion was found in 6 patients, including 4 with azoospermia and 2 with severe oligozoospermia. No deletion of RBM and SRY region was found in 30 normal men who had children.Conclusion: RBM gene is one of the important candidates for azoospermiafactor(AZF). Microdeletion of RBM is a major cause of azoospermia and severe oligozoospermia leading to male infertility.Thus, detection of RBM gene is of clinical significance in the study of male infertility.