期刊文献+

聚合酶链反应用于进行性脊髓性肌萎缩的诊断 被引量:2

Diagnosis of progressive spinal muscular atrophy by using polymerase chain reaction
原文传递
导出
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)技术用于检测SMA疾病的诊断价值。方法应用PCRRFLP技术对10例拟诊为SMA患者、6个家系的20例非SMA成员及30例正常人的SMN基因外显子7和8进行了检测。结果10例SMA可疑患者中9例(90%)有SMN基因缺失,其中仅外显子7或8缺失各为1例。家系其他成员及对照组均无SMN端粒基因缺失。结论用PCRRFLP法对高度可疑SMA的病例进行诊断,具有较高敏感性和特异性。 Objective To understand the deletion in the survival motor neuron gene (SMN) with childhood onset spinal muscular atrophy (SMA) in Chinese, and the value of diagnosis in SMA disease by using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) method. Methods Deletions of SMN gene of exon 7 and 8 in 10 cases of presumed SMA, and 20 normal control from 6 families and 30 unrelated controls were performed by PCR RFLP analysis. Results Deletions of SMN gene were detected in 9 of ...
出处 《中华检验医学杂志》 CAS CSCD 1998年第3期4-6,共3页 Chinese Journal of Laboratory Medicine
关键词 肌萎缩.脊髓性 聚合酶链反应 多态性.限制性片段长度 Muscular atrophy spinal Muscular atrophy spinal Polymerase chain reaction Polymorphism Restriction fragment length
  • 相关文献

同被引文献12

  • 1姚娟,中华医学检验杂志,1998年,21卷,3期,133页
  • 2Lefebvre S, Burgler L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy determining gene. Cell,1995, 80: 155-165.
  • 3van der Steege G, Draaijer TG, Grootscholten PM, et al. PCR-based DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 1995, 345:985-986.
  • 4Ogino S, Leonard DG, Rennert H, et al. Spinal muscular atrophygenetic testing experience at an academic medical center. J Mol Diagn, 2002,4:53-58.
  • 5Nguyen DB, Sadewa AH, Takeshima Y, et al. Deletion of the SMN1and NAIP genes in Vietnamese patients with spinal muscularatrophy. Kobe J Med Sci, 2003,49:55-58.
  • 6Wirth B.An uNate of the mutation spectrum of the survival motor neuron gene(SMN1)in autosomal recessive spinal muscular atrophy (SMA).Hum Mutat,2000,15:228-237.
  • 7Shawky RM.Abdel-Ahem K,Rffaat MM,et a1.Molecular diagnosis of spinM muscular atrophy in Egyptians.East Mediterr Health J,2001,7:229-237.
  • 8Khanh TV,Takeshima Y,Harada Y,et a1.Molecular genetic analyses of five Vietnamese patients witll spinal muscular atrophy.Kobe J Med Sci,2002,48:177-182.
  • 9丁新生,姚娟,陈克连,吴芳玲,沈鸣九,王颖,李弘钧,陈伟贤,侯熙德.脊髓性肌萎缩症的基因诊断[J].临床神经病学杂志,1997,10(6):330-332. 被引量:9
  • 10杨涛,袁丽芳,刘天慈,周文敏,吴沪生,赵时敏,孙念怙,霍亮,马素参,林振兴.脊肌萎缩症基因缺失的初步研究[J].中华医学遗传学杂志,1998,15(2):95-97. 被引量:5

引证文献2

二级引证文献3

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部