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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 microdeletion of AZF in patients with Y chromosome polymorphism infertility. The male infertile patients diagnosed as large Y or small Y karyotype by chromosome karyotype analysis were collected from the peripheral blood to collect the DNA. Then 25 STS sites on Y chromosome were amplified by multiplex PCR, and the Y chromosome microdeletions Case. Among the 22 cases with small Y, 12 cases had Y chromosome microdeletions, of which 8 cases were AZFb + d + c region deletion, 2 cases were AZFd + c region deletion, 2 cases were AZFc partial deletion; 10 cases were large Y One patient was found to have a partial deletion of the AZFc region. Small Y chromosome patients AZF microdeletions with a high probability, in part, AZF multiple regions of the common deletion; found in a large Y patients AZFc area of 4 STS partial deletion, may be related to its infertility symptoms related.