306例无精子症和严重少精子症患者DAZ基因缺失研究

目的:探讨AZFc/DAZ基因缺失与不育患者精子生成障碍的关系。方法:应用多重PCR技术对无精子症217例和严重少精子症89例患者的外周血细胞进行DAZ基因缺失检测。结果:共发现32例有DAZ基因缺失,其中无精子症21例,缺失率为9.68%;严重少精子症11例,缺失率为12.36%。sY84,sY86及ZFX/Y扩增均为阳性。60例正常生育男性均无DAZ缺失。结论:DAZ基因是AZF重要的候选基因,DAZ微缺失可能是引起无精子和严重少精子并造成男性不育的最重要原因之一。

Study on the DAZ Genes Deletion of the patients with male spermatogenic failure

Objective:To study the relationship between AZFc/DAZ gene deletion and male spermatogenic failure.Methods:DAZ gene region of Y chromosome were detected by Multi-PCR technique in 217 azoospermia,89 oligozoospermia patients and 60 normal fertile men.Results:Among the306 patients,32 patients had been found with DAZ microdeletion,including 21 azoospermia(9.68%) and 11 oliozoospermia(12.36%).The deletion of ZFX/Y,sY84 and sY86 gene was not found.The deletion of DAZ were not found in 60 normal fertile men.Conclusion:DAZ gene is one of the important candidates for azoospermia factor(AZF).Microdeletion on DAZ gene is a major cause of azoospermia and oligozoospermia which lead to male infertility.