Hu Lan-Ping, Liu Neng-Hui, Pan Qian, Liang De-Sheng, Long Zhi-Gao, Hu Hao, Zhu Hai-Yan, Dai He-Ping, Cai Fang, Wu Ling-Qian, Xia Kun, Xia Jia-Hui
National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):241-5.
To investigate the correlation between male infertility and Y chromosome microdeletions of azoospermia factor (AZF) regions, and to establish a reliable genetic diagnosis in idiopathic infertile male patients with azoospermia or severe oligozoospermia.
Multiplex PCR amplification of 6 sequence-tagged sites in AZF regions of the Y chromosome was examined among 100 normal karyotype male patients with azoospermia or oligozoospermia.
Four patients (4%) had Y chromosome microdeletions, the microdeletions of 3 patients were idiopathic azoospermic and those of the other 1 patient were secretory azoospermia.
The PCR-based Y chromosome microdeletion screening is simple and effective in the diagnosis of patients with severe male infertility. Microdeletion of Y chromosome is one of the major causes of severe dyszooospermia.
探讨男性不育与Y染色体无精子症因子（AZF）区域微缺失之间的相关性，并为特发性无精子症或严重少精子症的男性不育患者建立可靠的基因诊断方法。
对100例核型正常的无精子症或少精子症男性患者进行Y染色体AZF区域6个序列标签位点的多重PCR扩增检测。
4例患者（4%）存在Y染色体微缺失，其中3例为特发性无精子症，另1例为分泌性无精子症。
基于PCR的Y染色体微缺失筛查对严重男性不育患者的诊断简便有效。Y染色体微缺失是严重精子发生障碍的主要原因之一。
