摘要
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(DYS 2 37) +AZFc(DAZ +DYS 2 40 ) ,后者为AZFd(DYS 2 37)。 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。
Objective To assess the relationships between idiopathic oligospermia 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.
出处
《中华泌尿外科杂志》
CAS
CSCD
北大核心
2001年第5期307-309,共3页
Chinese Journal of Urology
基金
首都医学发展科研基金资助! (ZD19980 6)
