摘要
目的:观察Y染色体AZF微缺失与原发性无精子症和严重少精子症之间的关系。方法:所有筛选入实验组的研究对象均进行外周血生殖内分泌激素卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)的检测及染色体核型分析,排除激素水平异常者及染色体结构与数目异常者。将符合纳入标准的实验对象67例分为原发性无精子症组(A组)49例与原发性严重少精子症组(B组)18例,正常生育男性对照(C组)40例。确定了8个实验用序列标签位点(STS),分别是:sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255,并以X/Y连锁锌指蛋白基因(ZFX/Y)为内对照进行多重PCR筛查AZF微缺失。结果:67例实验组样本中,共检测出AZF微缺失8例,缺失率为11.94%,其中AZFc区缺失的有4例,AZFa+AZFc区缺失的有2例,AZFb+AZFc区缺失的有1例,AZFb区缺失的有1例。对照组未检出AZF基因微缺失。经χ2检验,实验组与对照组AZF区域STS总缺失率有显著性差异,实验组高于对照组。结论:Y染色体长臂AZF微缺失与原发性无精子症和严重少精子症相关,多重PCR是一种快速、有效的筛查方法。
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 ann 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.
出处
《中华男科学杂志》
CAS
CSCD
2006年第2期108-111,共4页
National Journal of Andrology
关键词
原发性无精子症
原发性少精子症
AZF微缺失
idiopathic azoospermia
idiopathic oligozoospermia
azoospermia factor microdeletion
