【摘要】 目的建立稳定的少、弱精症患者Y染色体微缺失的基因诊断方法,研究男性不育与Y染色体位点缺失的相关性。方法选取位于AZF区15个STR微卫星标记分成4组进行多重PCR的检测。结果90例少弱精患者中,检出7例缺失,占患者的7.8%。其中有3例为单个位点的缺失,有4例为大片断缺失。结论多重PCR是检测Y染色体微缺失的合适方法,AZFb和AZFc区与少弱精症密切相关。更多还原

【Abstract】 Objective To create genetic diagnosis method of the microdeletions in the Y chromosome,to assess the relationships between idiopathic oligospermia or azoospermia and microdeletions in the Y chromosome. Methods Fifteen Y linked sequence tagged sites in AZF region which divided into 4 groups and were screened by means of multiplex PCR in 90 idiopathic oligospermia or azoospermia patients. Results Microdeletions in the genomic DNA were observed in 7 of the 90 cases , the total deletion rate was 7.8%.Among them, 3 cases had single site deletion,4 cases had multiplex sites (deletions). Conclusions Multiplex PCR is a valid technique for detection of microdeletions. Microdeletions of the AZFb and AZFc may be an important reason of idiopathic oligospermia or azoospermia.更多还原