无精子症和严重少精子症患者AZF/DAZ基因微缺失的分子生物学检测  

Molecular analysis of microdeletion on AZF/DAZ gene in patients with idiopathic azoospermia and severe oligozoospermia

作　　者：张群芳[1] 陈文祯[1] 罗美瑜[1] 刘逸萍[1] 康跃凡[1] 刘光[1] 张小燕[1] 郑备红[1] 林典梁[1] 王雅芬[1] 林小鸣[1] 

机构地区：[1]福建省妇幼保健院辅助生殖技术研究室,福州350001

出　　处：《生殖医学杂志》2004年第3期135-138,共4页Journal of Reproductive Medicine

基　　金：福建省青年科技人才创新项目课题基金资助 (2 0 0 1J0 70 )

摘　　要：目的　用分子生物学方法检测无精子症和严重少精子症患者无精子基因 (AZF)AZF/DAZ基因微缺失。　方法　应用聚合酶链反应 (PCR)技术对无精子症 4 7例、严重少精子症 4例进行Y染色体AZFa、AZFb、AZFc/DAZ、SRY的微缺失检测。　结果　 5 1例患者缺失率为 35 .3% (18/ 5 1) ,其中AZFa、AZFb、AZFc的微缺失分别为 4例 (7.8% )、5例 (9.8% )和 4例 (7.8% )。无精子症患者 1例 (1.9% )为AZFa、AZFb的双重缺失 ,2例 (3.9% )为AZFb、AZFc的双重缺失 ;2例 (3.9% )为AZFa、AZFb和AZFc的三重缺失 ;5 1例SRY基因PCR扩增均为阳性。 5例已有生育的正常男性均无AZFa、AZFb、AZFc、SRY的微缺失。　结论　AZF/DAZ(包括AZFa、AZFb、AZFc/DAZ)基因的微缺失是引起无精子和严重少精子导致男性不育的重要原因之一。AZF/DAZ基因微缺失的分子生物学检测对不明原因的不育男性行胞浆内单精子注射 (ICSI)时有指导意义。Objective: To identify the microdeletions of azoospermia factor (AZF) gene in the patients with idiopathic azoospermia or severe oligozoospermia.Methods:Polymerase chain reaction,with the sequence tagged sites (STS) primers sY84(AZFa),sY143 (AZFb),sY254 (AZFc) and SRY,was used to detect AZF microdeletion in 47 patients with azoospermia and 4 patients with severe oligozoospermia.Results: The microdeletions of AZF loci were found in 18 of 51 patients (35.3%),of which the deletion involved in AZFa,AZFb,AZFc,AZFa+b,AZFb+c and AZFa+b+c was 4 (7.8%),5 (9.8%),4 (7.8%),1 (1.9%),2 (3.9%) and 2 (3.9%),respectively. No deletion in SRY region was found in 51 patients. No deletion of AZFa,AZFb,AZFc/DAZ,SRY region was found in five normal males who had one or more children.Conclusion: Microdeletions on AZF/DAZ gene is a major genetic factors leading to azoospermia and severe oligozoospermia in male infertility. It is necessary to have genetic counseling and perform analysis of microdeletion on AZF/DAZ gene before intracytoplasmic sperm injection (ICSI).

关 键 词：男性不育 无精子因子 聚合酶链式反应 AZF/DAZ基因 

分 类 号：R698.2[医药卫生—泌尿科学]