特发性无精子症及严重少精子症患者Y染色体微缺失检测

目的 在广东中山地区建立Y染色体微缺失检测，将其应用于特发性无精子症或严重少精子症患者的病因学诊断及遗传咨询。方法 利用Y染色体特异序列标签位点，以多重PCR法检测特发性无精子症或严重少精子症患者及精液正常者的Y染色体微缺失情况。结果 无精子症或严重少精子症组35例，共检出Y染色体微缺失4例，缺失频率为11％。其中，无精子因子C区缺失3例，无精子因子B区缺失1例。精液正常者组20例未发现Y染色体微缺失。结论 Y染色体微缺失是造成男性无精子症或严重少精子症的病因之一，对临床上特发性无精子症或严重少精子症患者应进行Y染色体微缺失检测。

Detection of Y chromosome microdeletions in idiopathic azoospermic and serious oligozoospermic men

Objective To establish the technique of the detection of Y chromosomal microdeletions in Zhongshan City,Guangdong Province,apply it to the etiology and genetic consultation for idiopathic azoospermic and severe olegozoospermic men. Methods Y chromosomal microdeletions were detected from DNA of idiopathic azoospermic and severe oligozoospermic men or of normospermic men by the Y specific sequence tagged site multi polymerase chain reaction. Results Microdeletions were detected in 11 %(4/35) of azoospermic and oligozoospermic men,and 0 of normospermic men.Among which,there were in AZFc region,one in AZFb. Conclusion Y chromosome microdeletion is one of the causes which result in azoospermia or severe oligozoospermia.The detection of Y microdeletion is necessary for idiopathic azoospermic and severe oligozoospermic men.