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| 一个Kennedy病家系的临床、病理和分子遗传学研究 | |
| 引用本文： | 赵玫,张社卿,王文章,徐晓云,丁素菊.一个Kennedy病家系的临床、病理和分子遗传学研究[J].第二军医大学学报,2009,30(11):1254-1259. |
| 作者姓名： | 赵玫 张社卿 王文章 徐晓云 丁素菊 |
| 作者单位： | 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Kenne-dy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 |
| 收稿时间： | 2009/1/16 0:00:00 |
| 修稿时间： | 2009/10/12 0:00:00 |
A clinical,pathological and genetic study of a Chinese family with Kennedy disease |
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| ZHAO Mei,ZHANG She-qing,WANG Wen-zhang,XU Xiao-yun,DING Su-ju.A clinical,pathological and genetic study of a Chinese family with Kennedy disease[J].Academic Journal of Second Military Medical University,2009,30(11):1254-1259. | |
| Authors: | ZHAO Mei ZHANG She-qing WANG Wen-zhang XU Xiao-yun DING Su-ju |
| Institution: | ZHAO Mei1,ZHANG She-qing2,WANG Wen-zhang3,XU Xiao-yun1,DING Su-ju21.Department of Neurology,East Hospital,Tongji University,Shanghai 200120,China2.Department of Neurology,Changhai Hospital,Second Military Medical University,Shanghai 2004333.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 i... |
| Keywords: | X-linked spinal and bulbar muscular atrophy androgen receptor gene gene determination pedigree pathology |
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