严重少精症患者Y染色体微缺失的家系研究

目的:研究1例严重少精症患者及其男性亲属Y染色体微缺失,探讨男性不育患者Y染色体微缺失的发生机制。方法:通过对18个AZF区域序列标签位点(STS)的多重PCR扩增,检测1例严重少精症患者及其男性亲属Y染色体微缺失。结果:AZFc区的完全缺失是导致该患者严重少精的病因,该患者AZFc区缺失是新发生的基因突变。结论:新发生的基因突变是严重少精症患者Y染色体微缺失的发生机制之一,Y染色体微缺失是导致男性不育的一个重要因素。

Investigation of Y chromosome microdeletions in a severe oligozoospermia and his male family members

Objective： To study the mechanism of Y chromosome microdeletions in male infertility through analyzing Y chromosome microdeletions in a severe oligozoospermia and his male family members. Methods： Eighteen Y-specific sequence-tagged sites in AZF region were detected by means of multiplex PCR in a severeoligozoospermia and his mate family members. Results： The entirely deletion of AZFC was the cause of severe oligozoospermia about this male infertility patient and AZFc microdeletion was a kind of de nove mutation. Conclusion： One of the mechanism about Y chromosome microdeletions is de nove gene mutation and Y chromosome microdeletion is an important factor that causes male infertility.