男性不育患者中Y染色体AZF微缺失与细胞遗传学分析  

Analysis of cytogenetics and Y chromosome AZF microdeletions in infertile males

作　　者：张露[1] 明蕾[1] 潘颖[1] 李春燕[1] 

机构地区：[1]武汉大学人民医院生殖中心,武汉430060

出　　处：《中国男科学杂志》2013年第5期26-30,44,共6页Chinese Journal of Andrology

基　　金：国家自然科学基金资助项目（30640039）

摘　　要：目的探讨男性生精功能障碍的遗传学因素，为染色体核型异常和AZF微缺失患者在辅助生殖技术之前提供遗传咨询。方法回顾性分析2010年7月至2012年11月来我院生殖中心行辅助生殖技术的夫妇，根据WHO最新精液标准将男性不育患者566例分为3组：少弱精子症组（336例）、严重少弱精子症组（116例）和无精子症组（114例），运用G显带及聚合酶链反应（PCR）技术对男性不育患者的外周血染色体及Y染色体AZF区域的6个序列标签位点（STSs）进行检测，并对核型为46,XX男性进行SRY基因检测。结果少弱精子症组染色体异常发生率为15.18%（51/336），AZF微缺失2例，发生率为0.60%（2/336）；严重少弱精子症组染色体异常发生率为18.97%（22/116），AZF微缺失5例，发生率为4.31%（5/116）；无精子症组染色体异常发生率为14.91%（17/114），AZF微缺失12例，发生率为10.53%（12/114）。结论男性不育患者IVF/ICSI术前需进行细胞遗传学检查及AZF微缺失的检测，胚胎植入前诊断有助于筛选正常核型胚胎，减少异常核型后代出生。Objective To explore the genetic factors of male spermatogenic arrest and give appropriate genetic counseling for patients with the abnormal karyotype and AZF microdeletions prior to receiving assisted reproductive technology. Methods A restrospective analysis of couples who underwent the ART in our reproductive center between July 2010 to November 2012 was carried out. Based on the lastest WHO semen analysis criteria, male infertility patients （566 cases） were divided into three groups such as oligozoospermia group（336 cases）,severe oligozoospermia group（116 cases）, azoospermia group（114 cases）. Chromosome karyotype analysis was detected by G-banding stains and 6 sequence tagged sites（STSs） of AZF region located on the Y chromosome was assayed by PCR. The SRY gene was also detected in patients with Karyotype 46,XX. Results Of 336 patients in oligozoospermia group, 51 patients （15.18%） had chromosomal abnormalities, 2 patients （0.60%） had AZF microdeletion;Of 116 patients in serious oligozoospermia group, 22 patients （18.97%） had chromosomal abnormalities, 5 patients（4.31%） had AZF microdeletion; Of 114 patients in azoospermia group, 17 patients （14.91%） had chromosomal abnormalities, 12 patients（10.53%） had AZF microdeletion. Conclusion Cytogenetic analysis and AZF microdeletion test should be carried out for infertile men prior to IVF/ICSI treatment. Preimplantation diagnosis contributes to normal karyotype embryo screening, and reduce offspring born with abnormal karyotype.

关 键 词：Y染色体 遗传学 不育 男性 

分 类 号：R698.2[医药卫生—泌尿科学] R394.22[医药卫生—外科学]