不育男性Y染色体AZF区域微缺失分析  

MICRODELETION OF Y CHROMOSOME AZF REGION IN INFERTILE MALES

作　　者：陈凯 王敬丽[2] 李强[3] 刘世国[2] 李慎谦[3] 王修海[4] 

机构地区：[1]山东省成武第一中学,山东菏泽274200 [2]青岛大学附属医院产前诊断中心 [3]青岛大学附属医院男科 [4]青岛大学医学院生物学教研室

出　　处：《青岛大学医学院学报》2016年第5期512-514,518,共4页Acta Academiae Medicinae Qingdao Universitatis

基　　金：国家自然科学基金资助项目(30971586);山东省自然科学基金资助项目(ZR2009CM094)

摘　　要：目的分析不育男性Y染色体长臂无精子症因子(AZF)区域的微缺失情况。方法采用多重PCR技术,筛查在青岛大学附属医院男科门诊就诊的140例诊断为非梗阻性无精子症、严重少精子症病人Y染色体上AZFa、AZFb、AZFc和AZFd等4个区域的微缺失情况,同时设置空白对照,并采用正常男性DNA标本作为阳性对照。结果 140例男性病人中共检出17例AZF区域微缺失,缺失率为12.1%;其中,非梗阻性无精症15例,严重少精症2例。上述病人中13例被检出AZFc+AZFd区域或AZFb+AZFc区域的双重缺失,2例被检出AZFc+AZFb+AZFd区域三重缺失;AZFb区域缺失率为29.4%(5/17),AZFc区域为88.2%(15/17),AZFd区域为82.4%(14/17)。结论男性不育病人Y染色体长臂AZF区微缺失与男性不育有着密切的关系。Objective To analyze microdeletions of Y chromosome Azoospermia factor（AZF）region in infertile males.Methods Using multiple PCR technology,microdeletions of AZFa,AZFb,AZFc and AZFd regions in Y chromosome were detected in 140 infertile males- who visited andrology clinic of the Affiliated Hospital of Qingdao University-with non-obstructive azoospermia and severe oligozoospermia.A blank control was set up,and healthy male DNA specimens were collected and served as positive controls. Results Among the 140 male patients,microdeletion in AZF region was detected in 17（12.1%）,of which,15 with non-obstructive azoospermia,and two with severe oligozoospermia.In the above patients,13 were detected with double deletions of AZFc＋AZFd region or AZFb＋AZFc region,and two with three deletions of AZFc＋AZFb＋AZFd region.The region deletion rate of AZFb was 82.4%（14/17）,that of AZFc was 88.2%（15/17）and that of AZFb was 82.4%（14/17）. Conclusion Y chromosome microdeletions in AZF region are closely related with male infertility.

关 键 词：不育 男(雄)性 染色体缺失 无精子症因子 聚合酶链反应 

分 类 号：R698.2[医药卫生—泌尿科学]