特发性无精子症和严重少精子症中的无精子症因子微缺失

[Azoospermia factor microdeletions in idiopathic azoospermia and severe oligozoospermia].

作者信息

Jia Yi-Fang, Wu Ai-Hua, Qiu Yi, Qu Ji-Ying, Song Chang-Zheng

机构信息

Key Laboratory for Improving Birth Outcome Technique of Shandong Provincial Institute of Family Planning Resaerch, Jinan, Shandong 250002, China.

出版信息

Zhonghua Nan Ke Xue. 2006 Feb;12(2):108-11.

PMID:16519142

Abstract

OBJECTIVE

To observe the relationship between microdeletions of AZF( azoospermia factor) on Y chromosome in male with idiopathic azoospermia and severe oligozoospermia.

METHODS

Only patients with an apparently normal 46,XY karyotype and normal FSH, LH and T were included in this study. Multiplex PCR was used to detect the sequence-tagged sites( STS) as follows :sY84, sY86, sY127, sY134, sY152, sY153, sY254, sY255, and ZFX/Y was used as internal control gene.

RESULTS

No microdeletion was detected in the control whereas 8 microdeletion cases existed in 67 idiopathic azoospermia and severe oligozoospermia, including 4 in AZFc, 2 in AZFa + AZFc, 1 in AZFc + AZFb, and 1 in AZFb. The prevalence rate of microdeletion was 11.94%, which was statistically different from the control.

CONCLUSION

Microdeletions in the AZF regions on the long arm of the Y-chromosome are associated with idiopathic azoospermic and severely oligozoospermic men. Multiplex PCR was a rapid and reliable method for screening microdeletions of AZF.

摘要

目的

观察特发性无精子症和严重少精子症男性患者Y染色体上无精子症因子（AZF）微缺失情况及其相互关系。

方法

本研究仅纳入核型为46,XY且外观正常，促卵泡生成素（FSH）、促黄体生成素（LH）及睾酮（T）水平正常的患者。采用多重聚合酶链反应（Multiplex PCR）检测序列标签位点（STS），具体包括：sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255，并以锌指蛋白X/Y基因（ZFX/Y）作为内对照基因。