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目的探讨男性特发性无精子症和少精子症与Y染色体无精子症因子(AZF)微缺失的关系。方法采用聚合酶链反应技术对208例特发无精子症与少精子症患者和183例正常男性及10例正常女性Y染色体上AZF基因(STS)上的3个位点SY86、SY127、SY254及内参基因SRY、ZFY进行检测。结果 208例无精子症与少精子症患者中共检出Y染色体微缺失25例,缺失率为12.02%。其中48例无精症患者中发现10例(20.8%),160例少精症患者中发现15例(9.38%)。183例正常男性未检测出微缺失,10例正常女性仅有ZFY片段。结论 AZF缺失是特发性无精子症和少精子症造成男性不育的重要原因之一,对无精子症和少精子症患者有必要进Y染色体微缺失的常规检测。
Objective To investigate the relationship between male idiopathic azoospermia and oligospermia and Y chromosome azoospermia factor (AZF) microdeletions. Methods The polymorphisms of SY86, SY127 and SY254 in 208 cases of idiopathic oligospermia and oligospermia and 183 cases of normal male and 10 cases of normal female AZF gene (STS) were detected by polymerase chain reaction Internal reference genes SRY, ZFY were detected. Results Twenty-five patients with Y-chromosome microdeletions were detected in 208 cases of azoospermia and oligospermia with a deletion rate of 12.02%. Of the 48 cases of azoospermia found in 10 cases (20.8%), 160 cases of oligozoospermia were found in 15 cases (9.38%). 183 cases of normal men did not detect microdeletions, 10 cases of normal women only ZFY fragment. Conclusion AZF deletion is one of the important causes of idiopathic azoospermia and oligozoospermia causing male infertility. It is necessary to enter the routine test of Y chromosome microdeletion in patients with azoospermia and oligospermia.