男性不育患者Y染色体的AZF基因微缺失分析

Analysis of AZF gene microdeletion in Y chromosome for males with infertility

目的探索男性不育患者Y染色体AZF基因微缺失的发生情况,为男性不育的临床诊断和治疗提供科学依据。方法应用PCR方法对36例无精或严重少精患者AZF基因的SY84、SY127和SY254进行检测分析。结果在36例患者中发现16例发生AZF基因的微缺失,均为三个基因区段不同组合的缺失。其中涉及AZFa或AZFb缺失的各8例,涉及AZFc缺失的有14例。结论AZF基因的微缺失与某些男性不育密切相关。AZFc缺失可能是男性不育中无精子、严重少精子的主要病因之一。

Objective： Try to explore the AZF gene microdeletion in Y chromosome in males with infertility, in order to show the scientific evidence for diagnosis and treatment of male infertility. Methods： SY84, SY127 and SY254 in AZF gene were analyzed with PCR in 36 cases of azoospermia or severe oligozoospermia. Results： There were 16 cases with AZF gene microdeletion, which were combined deletions in AZFa, and/or AZFb, and/or AZFc. In these 16 cases, both 8 cases were detected deletions in AZFa and/or AZFb, and there were 14 cases with AZFc deletion. Conclusion： The microdeletion of AZF closely associated with some portions of male infertility. AZFc deletion could be one major cause of male infertility, including azoospermia and severe oligozoospermia.