Y染色体微缺失与男性不育相关

目的：探讨Y染色体微缺失原因不明性无精症、少精症所致男性不育的相关性。方法;特发性少精症18例、特发性严重少精症12例,特发性无精症5例及正常已生育健康男性10例作为研究对象和正常对照,应用多重PCR技术,对精液基因组DNA进入Y染色体上连续的18个序列标记位点检测。结果：少精症18例中发现Y染色体微缺失2例,严重少精症12例中发现Y染色体微缺失3例,无精症5例和正常已生育男性10例均末发现Y染色体微缺失,缺失形式3种。结论：Y染色体微缺失与精子发生障碍相关。

Relationship between Y chromosome microdeletion and male infertility

AIM To evaluate the microdeletion of Y chromosome in infertile men with idiopathic azoospermia and oligozoospermia. METHODS 18 patients with idiopathic azoospermia, 12 with severe idiopathic oligozoospermia and 5 with idiopathic oligozoospermia were selected for analysis. 10 normal fertile males were used as the control. Multiple polymerase chain reaction was performed to detect microdeletin of Y chromosome in genomic DNA of semen, and a series of 18 sequencetagged sites (STSs) mapped within Y chromosome were selected. RESULTS Y chromosome microdeletion was observed in 2 of the 18 males with oligozoospermia, and in 3 of the 12 males with severe oligozoospermia. No such deletion was observed in 5 azoospermic males and 10 normal fertile men.The 3 patterns of microdeletion were identified. CONCLUSION Y chromosome microdeletion might be closely related to spermatogenic failure.