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目的 探讨特发性无精子症和严重少精子症与DAZ基因的关系及意义。方法 应用PCR技术对 5 0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12例 )的外周血细胞进行DAZ基因检测。结果 5 0例中发现 6例 (12 % )有DAZ基因微缺失 (其中无精子症 4例 ,占8% ;严重少精子症 2例 ,占 4 % ) ;SRY基因PCR扩增均为阳性。 5 0例已有生育的正常男性均无DAZ及SRY的微缺失。结论 DAZ为无精子因子 (AZF)的重要候选成分 ,DAZ微缺失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。
Objective To investigate the relationship between idiopathic azoospermia and severe oligospermia and DAZ gene. Methods The peripheral blood cells of 50 azoospermia and severe oligospermia patients (including 38 cases of azoospermia and 12 cases of severe oligospermia) were detected by PCR. Results There were 6 cases (12%) with DAZ microdeletion (4 cases without azoospermia, 8% with azoospermia; 2 cases with severe oligospermia, accounting for 4%) in 50 cases. The PCR amplification of SRY gene was positive. There are no microdeletion of DAZ and SRY in 50 normal male fertility cases. Conclusion DAZ is an important candidate for azoospermia (AZF). Microdeletion of DAZ may be one of the important causes of azoospermia and severe oligozoospermia and male infertility.