四川地区Y染色体多态性男性AZF微缺失研究  

The investigation of AZF microdeletions of patients with long or small Y chromosome in Sichuan population

作　　者：张选勇 陈祖翼 丁显平[1,2] 张艺雯[1] 张建辉[1] 马腾蛟[1] 张韶红[1] 

机构地区：[1]四川大学生命科学学院遗传医学研究所,特色生物资源研究与利用川渝共建重点实验室,成都610064 [2]重庆南川生物技术研究院,重庆南川408400

出　　处：《中国优生与遗传杂志》2014年第10期73-75,共3页Chinese Journal of Birth Health & Heredity

摘　　要：研究Y染色体多态性不育患者AZF微缺失的情况。经染色体核型分析确诊为大Y或者小Y核型的男性不育患者,采集其外周血提取DNA后,利用多重PCR对Y染色体上25个STS位点进行扩增,检测其Y染色体微缺失的情况。在22例小Y患者中检出12例有Y染色体微缺失,其中8例为AZFb+d+c区缺失,2例为AZFd+c区缺失,2例为AZFc区部分缺失;10例大Y患者中检出1例有AZFc区部分缺失。小Y染色体患者发生AZF微缺失的概率较高,部分为AZF多个区域的共同缺失;在大Y患者中发现了1例AZFc区的4个STS位点的部分缺失,可能与其不育的症状有关。To investigate the azoospermia region microdeletions of male infertility patients with long Y chromosome or small Y choromosome.Male infertility patients whose karyotypes analysis is long Y chromosome or small Y chromosome, drawed peripheral blood and extracted DNA.Multiplex PCR technology was performed to screen the partial deletions of 25 STSs on Y chromosome.In 22 cases with small Y chromosome, 8 cases were detected with deletions of AZFb＋d＋c, 2 cases were detected with deletions of AZFd＋c and 2 cases were detected with deletions of AZFc.In 10 cases with long Y chromosome, 1 case was detected with deletions of AZFc. Patients with small Y chromosome have a high detection rate of AZF micrideletions, some of them were common deletions of AZF multiple regions~ we found a case with long Y chromosome have deletions of 4 STSs on AZFc, it maybe associate with his infertility.

关 键 词：大Y染色体 小Y染色体 AZF微缺失 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]