无精子症和少精子症不育患者Y染色体AZF微缺失检测  

Detection of microdeletion in AZF region of Y chromosome in azoospermia and oligozoospermia infertility patients

作　　者：邝炎波[1] 张畅斌[1] 周庆葵[1] 朱照平[1] 郑毅春[1] 肖宗辉[1] 

机构地区：[1]广东省妇幼保健院,广东广州510010

出　　处：《中国性科学》2008年第6期3-6,共4页Chinese Journal of Human Sexuality

摘　　要：目的:探讨无精子症和少精子症患者Y染色体AZF微缺失与男性不育的关系。方法:采用多重PCR技术和毛细管电泳,对167例无精子症和少精子症患者进行Y染色体AZF微缺失检测,并以50例已生育的正常男性和10例正常女性作对照。结果:167例无精子症和少精子症患者中共发现AZF微缺失11例,总缺失率6.59%(11/167),其中无精子症患者65例,AZF微缺失4例,缺失率6.15%(4/65);严重少精子症患者50例,AZF微缺失7例,缺失率14.00%(7/50)。52例少精子症患者和50例已生育正常男性均未发现AZF微缺失。AZF微缺失的缺失类型及比例:AZFc缺失10例,占总缺失的90.91%(10/11);AZFb+c缺失1例,占总缺失的9.09%(1/11),11例缺失患者中未发现AZFa缺失。结论:染色体AZF微缺失是引起生精功能障碍导致男性不育的主要原因之一,AZF微缺失主要集中在无精子症和严重少精子症患者中,以AZFc缺失为主。Objectives： To discuss the relationship between azoospermatism or oligospermatism and microdeletions in the AZF region of the Y chromosome. Method： Multiplex PCR and capillary electrophoresis were used to detect the microdeletions in the AZF region of the Y chromosome of 167 infertile men with azoospermatism or oligospermatism. The control cases were 50 normal fertile male and 10 normal females. Result： The microdeletions in AZF had been detected within 11 of 167 infertile men,the total proportion of microdeletions in AZF was 6.59 percent（11/167）. Among 65 azoospermatism men,4 men had been detected microdeletions in AZF, the proportion was 6.15 percent（4/65 ） ;among 50 serious oligospermatism men,7 men had been detected to have microdeletions in AZF,the proportion was 14.00 percent（7/50）. The microdeletions in AZF hadnt been detected among all 52 oligospermatism men and 50 normal fertile men. As to the type of microdeletions in AZF and its proportion, 10 men had AZFc deletion with the proportion of 90.91 percent（ 10/11 ） ; 1 men had AZFb ＋ c deletion,the proportion being 9.09 percent （1/11 ）, and no AZFa deletion was detected among all men. Conclusion： The microdeletions in the AZF region of the Y chromosome is one of the major reasons to cause spermatogenic failure resulting in male infertility, the major affecting population of microdeletions in AZF were azoospermatism and serious oligospermatism patients, and the microdeletions in AZF focuses on AZF.

关 键 词：Y染色体 无精子因子 微缺失 男性不育 聚合酶链反应 毛细管电泳 

分 类 号：R698.2[医药卫生—泌尿科学] R512.1[医药卫生—外科学]