无精症及少精症患者的病因学研究

目的:探讨染色体核型异常和DAZ基因缺失与生精障碍的关系。方法:应用多重PCR技术对60例无精、少精患者和60例正常生育力男性进行DAZ基因检测,并对60例无精、少精患者进行外周血染色体检查。结果:在60例无精、少精患者中共发现23例异常,约为38.3%(23/60),其中DAZ基因缺失4例,染色体异常19例,DAZ基因缺失率为6.7%(4/60),染色体异常率为31.7%(19/60),正常生育力男性未检测到DAZ基因缺失。结论:染色体异常和DAZ基因缺失与生精障碍密切相关,是无精、少精的重要原因。

Study of the etiology of azoospermia and oligozoospermia

Objective: To investigate the correlation of spermatogenesis impediment with chromosomal abnormality and with the deletion of DAZ gene. Methods: Included in the study were 60 azoospermic and oligozoospermic patients, as well as 60 fertile men as controls. Multi-PCR was used to analyze the deletion of DAZ gene. Chromosomal quantity and construction were detected by G-band in the 60 patients. Results: Four of 60 patients showed deletion of DAZ gene and 19 patients showed chromosomal abnormality, the rate of DAZ deletion was 6.7%(4/60) and the incidence of chromosomal abnormality was 31.7%(19/60). There was no deletion of DAZ gene in 60 normal fertile men. Conclusion: Chromosomal abnormality and DAZ gene deletion are closely related to the spermatogenesis impediment,and they are important reasons for azoospermia and oligospermia.