【打印本页】 【下载PDF全文】 【HTML】 查看/发表评论下载PDF阅读器关闭

←前一篇|后一篇→

过刊浏览    高级检索

本文已被:浏览 2497次   下载 2154 本文二维码信息
码上扫一扫!
一个Kennedy病家系的临床、病理和分子遗传学研究
赵玫1,张社卿2,王文章3,徐晓云1,丁素菊2*
0
(1.同济大学附属东方医院神经内科,上海200120;2.第二军医大学长海医院神经内科,上海200433;3.复旦大学遗传学研究所,上海 200433)
摘要:
目的:报道经基因诊断证实的一个Kennedy 病家系,并对其临床、病理和分子遗传学特征进行讨论,建立关于Kennedy 病较为完整的临床资料。方法:展开完整的家系调查,共检查3代41位个体。对先证者进行肌酶谱、肌电图、内分泌功能检查、神经肌肉活检。采集外周静脉血常规提取基因组DNA,PCR扩增雄激素受体(androgen receptor,AR)基因第一个外显子的CAG重复数。结果:先证者(Ⅲ-11个体)CAG重复数为54;1例患者(Ⅳ-2个体)CAG重复数为55;1例症状前个体(Ⅳ-8 个体)CAG重复数为54。此外,还发现3例女性携带者(Ⅱ-6 个体、Ⅲ-3 个体、Ⅲ-15 个体)。先证者肌酶增高,肌电图示神经源性损害,血睾酮增高,神经活检显示周围神经脱髓鞘改变,肌肉活检表现为神经源性肌萎缩。结论:Kennedy病临床表现无特异性,基因诊断是金标准;本病病程进展缓慢,与肌萎缩侧索硬化或延髓麻痹相比病程明显延长,预后相对良性。
关键词:  X-连锁隐性遗传性脊髓延髓型肌萎缩  雄激素受体基因  基因检测  系谱  病理学
DOI:10.3724/SP.J.1008.2009.01254
投稿时间:2009-01-16修订日期:2009-10-12
基金项目:
A clinical,pathological and genetic study of a Chinese family with Kennedy disease
ZHAO Mei1,ZHANG She-qing2,WANG Wen-zhang3,XU Xiao-yun1,DING Su-ju2*
(1.Department of Neurology,East Hospital,Tongji University,Shanghai 200120,China;2.Department of Neurology,Changhai Hospital,Second Military Medical University,Shanghai 200433;3.Institute of Genetics,Fudan University,Shanghai 200433)
Abstract:
Objective:To report a genetically proven Kennedy disease pedigree in China and to discuss its clinical presentations,pathological features and molecular mechanism,so as to provide more information on Kennedy disease.Methods: We conducted a complete survey of the family,including 3 generations and 41 individuals. The proband was given a thorough clinical examination including CK level,EMG,testosterone level,nerve biopsy,and muscle biopsy.Genomic DNA was extracted from the peripheral blood; the repeats of CAG in the exon 1 of androgen receptor was amplified by PCR and sequenced directly.Results: The sequencing result showed that the proband(Ⅲ-11) had a CAG repeat of 54); one patient (Ⅳ-2) had a CAG repeat of 55; one had a CAG repeat of 54; one presymptomatic individual had a CAG repeat of 54(Ⅳ-8). There were 3 female carriers(Ⅱ-6,Ⅲ-3,and Ⅲ-15).The CPK and testosterone levels were increased in the proband.EMG revealed neurogenic injury.Nerve biopsy revealed demylination change in the peripheral nerve and muscle biopsy revealed muscle atrophy originated from nerve.Conclusion: Kennedy has no characteristic clinical symptoms,and gene diagnosis is the gold standard.The progression of SBMA is usually much slower compared with those of bulbar atrophy and atrophic lateral sclerosis(ALS).
Key words:  X-linked spinal and bulbar muscular atrophy  androgen receptor gene  gene determination  pedigree  pathology