25例无精症患者的分子细胞遗传学研究  

Molecular cytogenetic studies of 25 males with azoospermia

作　　者：葛运生 周裕林 吴慧南 江雨 周东兴 吴琼 郑艳玲 蔡美娇 沈艳艳 李健 黄新力 

机构地区：[1]福建省厦门市妇幼保健院产前诊断中心,361003 [2]Center for Human Genetics, Boston University School of Medicine, Boston,U S A

出　　处：《中华医学遗传学杂志》2008年第2期190-194,共5页Chinese Journal of Medical Genetics

摘　　要：目的通过对无精症患者异常染色体及Y染色体（Yqll．2区段）无精症因子（azoospermic fac—tor，AZF）微缺失的分析，探讨无精症与染色体异常的关系。方法对25例原因不明的无精症患者进行G带染色体核型分析、荧光口显带、荧光原位杂交（fluorescence in situ hybridization，FISH）和AZF微缺失PCR检测。结果25例原因不明的无精症患者中染色体核型异常7例，异常发生率为28％；对8例无精症患者进行AZF微缺失检测：AZF区微缺失2例，分别为AZFb（SYl27，SYl34）＋AZFc（SY254，SY255）缺失、AZFc（SY243，SYl58）缺失。结论染色体异常及Y染色体AZF微缺失是引起无精症并造成男性不育的重要原因之一，对无精症等不育男性患者在排除睾丸病变、阻塞性无精症、内分泌及免疫系统等临床病理学因素后，包括配偶有不明原因习惯性流产的男性均需做外周血染色体常规GTG-显带、荧光Q-显带检查。Q-带阴性的患者说明其Y染色体长臂缺失的断裂点高于Yql2，在Yqll．2区段，则需要结合FISH和AZF微缺失的PCR检测，以确诊Y染色体的微缺失区段，为患者的临床进一步治疗提供可靠的依据。Objective To investigate the clinical correlation of chromosome abnormalities and microdeletion in azoospermic factor （AZF） region on Y chromosome in 25 patients with azoospermia. Methods Chromosome analyses were performed by using chromosome GTG-banding, Q-banding, fluorescence in situ hybridization （FISH） and polymerase chain reaction （PCR） for AZF region on chromosome Yq. Results Seven eases showed abnormal chromosome karyotype （28%）. In 8 azoospermie patients tested, 2 showed mierodeletions of AZFb （SY127, SY134） ＋ AZFe （ SY254, SY255） and AZFe（ SY243, SY158） on chromosome Yq, respectively. Conclusion Chromosome abnormalities and AZF mierodelefion are major cause of azoosperrnia leading to male infertility; male with azoospermia and infertility should be referred to eytogenetie diagnosis by using chromosome GTG-banding, Q-banding after ruling out clinical factors including testopathy, obstructive azoospermia, and abnormalities in incretion and immune system. FISH or PCR analysis for AZF region on chromosome Yq should be done for the patient with azoospermia if Q-banding indicates the deletion above Yql2 region. It is of essential importance to provide precise diagnosis in genetic counseling for further clinical treatment.

关 键 词：男性不育症 无精症因子 荧光原位杂交 Y染色体微缺失 

分 类 号：R686[医药卫生—骨科学]