男性特发性不育症与RBM基因关系的探讨

RBM gene and idiopathic infertility in men

摘要: 目的: 评估特发性无精子症和严重少精子症患者中RBM基因微缺失发生的频率,并探讨RBM基因检测的临床意义。方法: 对22例无精子症和8例严重少精子症患者的外周血细胞运用聚合酶链反应技术进行RBM基因的检测。结果: 4例无精子症和2例严重少精子症患者有RBM基因微缺失。结论: Y染色体微缺失有可能通过垂直传播给男性后代;对无精子症和严重少精子症患者,在进行丈夫精液人工授精或胞浆内精子注射前,进行相关基因检测,对防止基因缺失传给下一代、提高优生率有着重要的临床意义。

Abstract: Objective: To assess the frequency of RBM gene microdeletion in men with idiopathic azoospermia and severe oligozoospermia,and to discuss the clinical significance of RBM gene detection.Methods: The RBM gene of peripheral blood leukocytes was detected by PCR technique in 22 azoospermia and 8 severe oligozoospermia patients.Results: RBM gene microdeletion was observed in 4 azoospermia and 2 severe oligozoospermia patients.Conclusions: As Azoospermic foctor deletion on Y chromosome long arm may be transmitted by vertical transmission,and result in infertile sons,detection of related genes is important for azoospermia and severe oligozoospermia patients before starting artificial insemination with the husband's semen and intracytoplasmic sperm injection in order to increase the eugenic birth rate.