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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 relationship between male infertility and RBM and DAZ genes. Methods The peripheral blood cells from 50 patients with azoospermia and severe oligospermia (including 38 cases of azoospermia and 12 cases of severe oligospermia) were detected by PCR. RBM and DAZ genes were detected by PCR. Results There were 6 cases with DAZ gene microdeletion (4 cases without azoospermia and 2 cases with severe oligospermia) in 50 cases. There were 2 cases with RBM gene microdeletion (1 case without azoospermia and severe oligospermia); 1 Only cases of azoospermia RBM gene microdeletions; SRY gene PCR amplification were positive. None of the 50 normal male fertility patients have a microdeletion of RBM and DAZ genes. Conclusion RBM and DAZ are important candidates for azoospermia (AZF). RBM and DAZ microdeletions are one of the important causes of azoospermia and severe oligozoospermia and male infertility. RBM and DAZ genetic testing of male infertility has some clinical significance.