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SMN基因诊断小儿脊髓性肌萎缩症 被引量:1

SMN gene diagnosis of spinal muscular atrophy in children
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摘要 目的了解儿童期发作的进行性脊髓性肌萎缩(SMA)患者的运动神经元存活基因(SMN)的缺失,探讨聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法用于SMA疾病的诊断价值。方法应用PCR-RFLP方法对3例SMA可疑患儿及其父母5例的SMN1基因外显子7和8进行了检测,并对其进行基因测序。结果3例SMA可疑患儿中3例均有SMN1基因缺失,为外显子7和8联合缺失。其父母均无SMN1基因缺失。基因测序支持诊断。结论用PCR-RFLP法对高度可疑儿童型SMA的病例进行诊断,具有较高敏感性和特异性,简便易行。 Objective To investigat the deletion in the survival motor neuron (SMN) gene with childhood-onset progressive spinal muscular atrophy ( SMA), explore the value of diagnosis in SMA disease by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Methods SMN1 gene of exon 7 and exon 8 in 3 suspected SMA children, and their 5 parents were detected by PCR-RFLP method. Also, PCR products were sequenced. Results Gene deletion of SMN1 was found in 3 of 3 suspected SMA children, deletion in both exon 7 and exon 8. No deletion of SMN1 gene was found from their parents. Diagnosis was supported by gene sequencing. Conclusion PCR-RFLP is more sensitive, specific and simple to diagnose children who are highly suspected childhood type SMA.
出处 《安徽医科大学学报》 CAS 北大核心 2007年第6期682-685,共4页 Acta Universitatis Medicinalis Anhui
关键词 肌萎缩 脊髓性/遗传学 运动神经元 基因缺失 muscular atrophy, spinaL/genetics motor neurons gene deletion
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  • 1Lai A H, Tan E S, Law H Y,et al. SMN1 deletions among singaporean patients with spinal muscular atrophy [ J ]. Ann Acad Med Singapore. 2005,34( 1 ) :73-7.
  • 2Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene [J]. Cell, 1995, 80(1) :155-65.
  • 3van der Steege G, Grootscholten P M, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy [ J ]. Lancet, 1995 ( 8955 ) , 345 : 985-6.
  • 4Lefebvre S, Burglen L, Frezal J, et al. The role of the SMN gene in proximal spinal muscular atrophy[ J ]. Hum Mol Genet, 1998,7 (10) :1531-6.
  • 5Wang X, Ma H W, Bi Z, et al. A simple and convenient gene diagnosis method of spinal muscular atrophy [ J ]. Clin J Med Genent,1997, 14(6) : 385-6.
  • 6梁国安,周柏林,余钟声.儿童脊髓性肌萎缩症的基因诊断[J].实用儿科临床杂志,2005,20(10):1011-1012. 被引量:6
  • 7陈万金,吴志英,王柠,林珉婷,慕容慎行.脊髓性肌萎缩症运动神经元生存基因2拷贝数与临床表型的关系[J].中华神经科杂志,2005,38(11):673-676. 被引量:11
  • 8Feldkotter M, Schwaraer V, Wirth R, et al. Quantitative analysis of SMN1 and SMN2 based on real time light cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy [ J]. Am J Hum Genet, 2002, 70(2) :358-68.
  • 9王旭,邹丽萍,方方,肖静,丁昌红,宋昉.运动神经元存活基因与儿童期脊肌萎缩症临床特征研究[J].临床儿科杂志,2005,23(5):275-277. 被引量:6
  • 10卢丽萍,麻宏伟.脊髓性肌萎缩临床分型的分子遗传学研究进展[J].国外医学(遗传学分册),2004,27(4):214-216. 被引量:3

二级参考文献54

  • 1卢丽萍,麻宏伟.脊髓性肌萎缩临床分型的分子遗传学研究进展[J].国外医学(遗传学分册),2004,27(4):214-216. 被引量:3
  • 2李文磊,吴婷,丁新生.脊髓性肌萎缩症的基因诊断[J].国外医学(神经病学.神经外科学分册),2004,31(4):346-349. 被引量:2
  • 3王旭,邹丽萍,方方,肖静,丁昌红,宋昉.运动神经元存活基因与儿童期脊肌萎缩症临床特征研究[J].临床儿科杂志,2005,23(5):275-277. 被引量:6
  • 4陈万金,吴志英,王柠,林珉婷,慕容慎行.应用变性高效液相色谱技术快速诊断儿童型脊髓性肌萎缩症(英文)[J].中华医学遗传学杂志,2005,22(3):291-293. 被引量:9
  • 5Jong YJ, Chang JG, Lin SP, et al. Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients. J Neur Sci, 2000,173:147-153.
  • 6Skordis LA, Dunckley MG, Yue B. Bifuncfional antisense oligonucleotides provide a trans-acting splicing enhancer that simulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA, 2003,100(7):4114-4119.
  • 7DiDonato C J, Parks B J, Kothary R, et al. Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implictions for spinal muscular atrophy therapy. Hum Gene Ther, 2003,14:179-188.
  • 8Monani UR, Sendtner M, Coovert D, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy.Hum Mol Genet, 2000,9(3):333-339.
  • 9Jablonka S, Scharnk B, Kralewski M, et al. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration:an animal model for spinal muscular atrophy type Ⅲ. Hum Mol Genet, 2000,9:341-346.
  • 10Frugier T, Nicole S, Cifuentes-Diaz C, et al. The molecular bases of spinal muscular atrophy. Curr Opin Genet, 2002,12:294-298.

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