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  

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

作　　者：方小武[1] 谭志伟[1] 雷继敏[1] 干志锋[1] 吴日然[1] 霍山 

机构地区：[1]中山市博爱医院生殖遗传医学中心,广东528403

出　　处：《中国生育健康杂志》2003年第1期25-27,共3页Chinese Journal of Reproductive Health

摘　　要：目的　在广东中山地区建立 Y染色体微缺失检测技术 ,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 2 0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.

关 键 词：男性不育 Y染色体微缺失 无精子症 严重少精子症 

分 类 号：R698.2[医药卫生—泌尿科学]