150例无精子和少精子症患者Y染色体AZF区微缺失检测及染色体核型分析  

The research of karyotype analysis and detection of AZF region microdeletion on Y chromosome within 150 oligospermia patients

作　　者：李鹏丽[1] 李娇[1] 马云霞[1] 张全斌[1] 郝子琪[1] 周永安[1] 

机构地区：[1]太原市中心医院中心实验室,太原030009

出　　处：《中国优生与遗传杂志》2014年第7期30-32,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析无精子和少精子症患者Y染色体AZF基因微缺失与染色体核型的关联。方法对无精子、少精子症男性患者Y染色体AZF基因区15个STS位点进行检测和染色体核型分析。结果 150例患者经15个STS位点检测发现AZF区微缺失12例,总缺失率为8.0%。其中AZFa缺失2例,缺失频率为1.3%;AZFb缺失1例,缺失频率为0.6%;AZFc缺失11例,缺失频率为7.3%;AZFd缺失10例,缺失频率为6.7%。AZF区缺失频率为AZFc>AZFd>AZFa>AZFb。12例AZF区微缺失的患者共存在4种缺失类型,其中10例患者为AZF区的联合缺失。所有患者经核型分析共检测出14例异常核型,异常率为9.3%。14例异常核型患者中有1例存在Y染色体微缺失;136例正常核型患者存在11例Y染色体微缺失。结论 Y染色体AZF区有缺失,不一定染色体核型异常,染色体核型异常也不排除有AZF的缺失;Y染色体微缺失与染色体核型异常不呈一一对应关系。Objective： Analysing the association of oligospermia patient＇ s AZF gene microdeletions and their karyotypes. Methods： Detecting 15 specific sequence tagged sites （STS） on AZF gene and analysing karyotypes for the patients. Results： 12 cases with AZF microdeletion were revealed out of 150 among which 2 were AZFa microdeletion, 1 was AZFb, c was 11 and d was 10 with deletion rate 1.3%, 0.6%, 7.3% and 6.7% respectively and 8% for entireness.4 types of microdeletions were revealed within 12 cases of which 10 were united microdeletions.14 out of 150 cases with karyotype abnormality were revealed with a rate of 9.3%.Among the 14 cases, one was Y chromosome mi , 11 out of 136 karyotypically normal patients were detected with Y chromosome microdeletion. Conclution： AZF gene microdeletion on Y chromosome and karyotype abnormality are not correspond to each other, it is suggested to detect them together for male infertility.

关 键 词：Y染色体微缺失 无精子症因子 序列标签位点 染色体核型 

分 类 号：R698.2[医药卫生—泌尿科学]