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肯尼迪病基因突变分析 被引量：4

Analysis of Gene Mutation on Patient with Kennedy’s Disease
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摘要 目的对1例临床拟诊断为肯尼迪病的患者进行雄激素受体(AR)基因突变分析。方法对肯尼迪病患者AR基因第一外显子CAG三核苷酸重复序列进行PCR扩增TA克隆后测序。结果基因检测结果表明,患者AR基因第一外显子中CAG重复序列数为50个,符合肯尼迪病基因诊断的标准。结论基因诊断可以作为肯尼迪病诊断的可靠依据。 Objective Kennedy’s disease is an adult-onset and slowly progressive motor neuron disease,characterized by progressive atrophy of the limb muscles,weakness and fasciculations.Our aim in this study was to identify the disease-causing genetic alteration in a patient with Kennedy’s disease.Methods We detected the repeat numbers of the trinucleotide CAG tandem-repeat in exon 1 of the androgen receptor （AR） gene by TA clone and sequencing.Results The exact number of CAG was 50 in the patient,met the diagnostic criteria of Kennedy’s disease.Conclusion The golden standard for diagnosing Kennedy’s disease is genetic analysis.
作者 曹丽华 商秀丽 王述森 季春燕 何志义 罗阳
机构地区 中国医科大学基础医学院医学基因组学教研室 中国医科大学附属第一医院神经内科
出处 《中国医科大学学报》 CAS CSCD 北大核心 2011年第7期577-579,共3页 Journal of China Medical University
基金 国家科技部“863”项目(2007AA02Z440)
关键词 肯尼迪病 雄激素受体基因 多聚谷氨酰胺延展 Kennedy’s disease androgen receptor gene expanded polyglutamine
分类号 R596.2 [医药卫生—内科学]
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参考文献17

  • 1Kennedy WR,Aher M,Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait [J]. Neurology, 1968,18(7) :671-680.
  • 2La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy [J]. Na- ture, 1991,352(6330) :77-79.
  • 3鲁明,樊东升,李小英,梁国威,李英,张华纲,康德瑄,张俊,张捷,王晶.基因确诊的肯尼迪病两例临床与分子生物学特点[J].中华神经科杂志,2007,40(4):232-236. 被引量：34
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二级参考文献11

  • 1周盛年,陈耀民,刘黎青,郭斌,陈瑞冬.脊髓延髓性肌萎缩症一例报告[J].中华神经科杂志,2004,37(6):582-582. 被引量：1
  • 2张社卿,丁素菊,郑惠民,蒋德科,李林国,余龙.Kennedy病一家系的临床和分子遗传学[J].中华神经科杂志,2006,39(11):753-757. 被引量：34
  • 3Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology, 1968,18 : 671-680.
  • 4La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in Ⅹ-linked spinal and bulbar muscular atrophy. Nature, 1991,352:77-79.
  • 5Tanaka F, Doyu M, ho Y, et al. Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet, 1996, 5: 1253-1257.
  • 6Parboosingh JS, Figlewicz DA, Krizus A, et al. Spinobulbar muscular atrophy can mimic ALS : the importance of genetic testing in male patients with atypical ALS. Neurology, 1997, 49:568- 572.
  • 7Lumbroso S, Lobaccaro JM, Vial C, et al. Molecular analysis of the androgen receptor gene in Kennedy' s disease. Report of two families and review of the literature. Harm Res, 1997, 47:23-29.
  • 8Antonini G, Gragnani F, RomanieUo A, et al. Sensory involvement in spinal-bulbar muscular atrophy (Kennedy' s disease). Muscle Nerve, 2000, 23:252-258.
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  • 10Beitel LK, Scanlon T, Gottlieb B, et al. Progress in spinobulbar muscular atrophy research: insights into neuronal dysfunction caused by the polyglutamine-expanded androgen receptor. Neurotox Res, 2005, 7:219-230.

共引文献33

同被引文献76

引证文献4

二级引证文献10

中国医科大学学报
2011年 第7期

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