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.
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
关键词
大Y染色体
小Y染色体
AZF微缺失
男性不育
Long Y Chromosome
Small Y Chromosome
AZF Microdeletions
Male Infertility
