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目的探讨不育男性患者Y染色体上无精因子基因(AZF)微缺失情况及其临床表现。方法对2005年10月~2014年7月在广西妇幼保健院就诊2 336不育男性患者采用多重聚合酶链反应结合琼脂糖凝胶电泳检测AZF15个序列标签位点。结果 2 336例患者中检测出AZF微缺失138例(5.91%),以c区微缺失率最高为4.92%,检出11种微缺失类型。其中单独AZFc区微缺失表现为少或弱精子症、严重少精子症和或无精子症,单独a区或b区微缺失表现为无精子症或严重少精子症,多个区联合微缺失均表现为无精子症。结论本地区男性不育患者AZF微缺失具有多样性,以c区微缺失为主,单独c区微缺失临床表现异质性较大,a区和b区微缺失临床表现较重,多个区联合微缺失时临床表现最严重。
Objective To investigate the microdeletions and clinical manifestations of the infertility gene (AZF) on Y chromosome in infertile men. Methods A total of 2 336 infertile males from Guangxi Maternity and Child Health Hospital from October 2005 to July 2014 were tested for the sequence of 15 AZF loci by multiplex polymerase chain reaction and agarose gel electrophoresis. Results A total of 138 cases (5.91%) of the AZF microdeletions were detected in 2 336 patients. The highest rate of microdeletions in c area was 4.92%. Eleven microdeletions were detected. Microdeletions in the AZFc region alone showed less or weak spermatozoa, severe oligozoospermia and / or azoospermia. The microdeletions in either region a or b showed azoospermia or severe oligozoospermia, and multiple regions of combined microdeletions Azoospermia manifested. Conclusion The microdeletions of AZF in male infertility patients in this area are diverse, with microdeletion of c area as the main component. The clinical manifestations of microdeletions in c area are heterogeneous, and the clinical manifestations of microdeletions in a and b areas are severe. Joint microdeletions the most serious clinical manifestations.