无精症及严重少精症患者染色体核型和Y染色体微缺失分析  

Analysis on chromosome karyotypes and Y chromosome microdeletions in patients with azoospermia or severe oligozoospermia

作　　者：滕贤麟 施金俏[1] 郭辉[1] 周燕霞[1] 

机构地区：[1]浙江省金华市人民医院检验科,浙江金华321000

出　　处：《检验医学》2014年第12期1212-1214,共3页Laboratory Medicine

摘　　要：目的分析男性不育中无精症及严重少精症患者染色体核型和Y染色体微缺失情况及分布特点,为卵细胞浆内单精子注射术(ICSI)辅助助孕前提供遗传学筛选依据。方法对150例无精症及严重少精症患者外周血液采用外周血淋巴细胞培养G显带方法进行染色体核型分析,采用多重聚合酶链反应(PCR)结合琼脂糖凝胶电泳检测Y染色体微缺失。结果 150例无精症及严重少精症患者,染色体核型异常14例,异常率9.3%;Y染色体微缺失16例,异常率10.7%。结论对无精症及严重少精症患者进行染色体核型分析和Y染色体微缺失检测,可为患者在ICSI辅助助孕前提供筛选依据,避免在ICSI治疗中将遗传缺陷传递给子代,同时减少患者精神上和经济上的负担。Objective To investigate chromosome karyotypes and Y chromosome microdeletions and their distribution characteristics in patients with azoospermia or severe oligozoospermia,in order to provide the reference for genetic screening of intracytoplasmic sperm injection( ICSI) before pregnancy. Methods A total of 150 patients with azoospermia or severe oligozoospermia were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction( PCR) combined with agarose gel electrophoresis. Results There were 14 cases of abnormal chromosome karyotypes and 16 cases of Y chromosome microdeletions in 150 patients with azoospermia or severe oligozoospermia,and the abnormal rates were 9. 3% and 10. 7%, respectively. Conclusions For patients with azoospermia or severe oligozoospermia,the chromosome karyotype analysis and Y chromosome microdeletion determinations could provide genetic screening reference before performing ICSI treatments,avoiding the genetic deficiency being passed to offspring and reducing the patients' mental and economic burdens.

关 键 词：染色体 核型 Y染色体微缺失 无精症 严重少精症 

分 类 号：R446.11[医药卫生—诊断学]