肯尼迪病一家系临床特点及分子遗传学研究  

Clinical and genetic analysis of a pedigree of Kennedy disease

作　　者：欧阳志远[1] 宋水江[1] 刘建仁[1] 张宝荣[1] 吴鼎文[2] 

机构地区：[1]浙江大学医学院附属第二医院神经科,浙江杭州310009 [2]浙江大学医学院附属儿童医院遗传代谢病科,浙江杭州310003

出　　处：《浙江大学学报（医学版）》2011年第5期555-558,共4页Journal of Zhejiang University(Medical Sciences)

基　　金：浙江省医药卫生科技计划项目(N20100763)

摘　　要：目的:报道一经基因诊断的肯尼迪病家系,探讨其临床特征和分子机制。方法:收集肯尼迪病患者家系的临床资料,用基因分析的方法,明确家系先证者雄激素受体(AR)基因第1号外显子CAG序列的重复数。结果:该家系有4例患者,临床特征为男性成年期发病,进行性四肢近端肌肉无力、萎缩,可伴乳房女性化、性功能减退,先证者经AR基因检测CAG重复数为51次,肌电图显示感觉、运动神经均受累,血清甘油三酯增高。结论:雄激素受体基因检测是诊断该病最可靠的方法,对怀疑为肯尼迪病的患者均应进行基因诊断。Objective: To review the clinical and genetic features of a pedigree of Kennedy disease in China. Methods: The clinical data of patients from a Kennedy disease family were collected.The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis. Results: In the pedigree,4 patients were identified as Kennedy disease.Clinical manifested with adult-onset,progressive proximal limb muscle weakness and atrophy,gynecomastia,oligospermia were also presented.The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband.The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly. Conclusion: Androgen receptors gene testing is the most reliable diagnosing method,the patients suspected as Kennedy disease should have a gene testing of androgen receptors.

关 键 词：运动神经元病/病理生理学 受体 雄激素 肌萎缩 肌萎缩 脊髓性 延髓 外显子 基因 

分 类 号：R744[医药卫生—神经病学与精神病学]