原因不明性无精症和少精症Y染色体微缺失的筛查分析

摘要

Objective To assess the relationships between idiopathicoligospermia or azoospermia and microdeletions in the Y chromosome. Methods 18 Y-linked sequence-tagged sites in AZF region were screened by means of multiplex PCR in 38 idiopathic oligospermia or azoospermia, including 11 azoospermia, 9 severe oligospermia, 18 oligospermia. Results Microdeletions in the genomic DNA were observed in 6 of 38 cases, 2 being in men with azoospermia,1 in severe oligospermia and 3 in oligospermia. The two formers were AZFd(DYS 237) +AZFc (DAZ+DYS 240),the latter was AZFd(DYS 237) in the deletion types.The total deletion rate was 16%(6/38). Conclusions Microdeletions of the Y chromosome is an important reason of idiopathic oligospermia or azoospermia . Multiplex PCR is a useful technique for detecting microdeletions.%目的 探讨原因不明性无精症和少精症不育男性与Y染色体微缺失的关系。 方法 应用多重PCR技术，对38例原因不明性无精症和少精症者(无精症11例、严重少精症9例、少精症18例)基因组DNA进行Y染色体连锁的18个序列标记位点缺失检测。 结果 38例中发现Y染色体微缺失6例,缺失率为16%，其中无精症2例,严重少精症1例，少精症3例。缺失形式前两者为AZFd(DYS237)+AZFc(DAZ+DYS240),后者为AZFd(DYS237)。 结论 Y染色体微缺失是原因不明性无精症和少精症的重要原因之一。采用多重PCR技术进行缺失检测，是一种非常有效的方法。