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假肥大型肌营养不良基因携带者检测方法的研究进展 被引量：2

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摘要 假肥大型肌营养不良 (DMD)在儿童神经肌肉系统疾病中发病率高 ,预后差 ,目前尚无有效的治疗方法 ,故携带者的检出对预防患儿出生具有重要意义。传统的检测方法漏诊率高 ,使用有限 ,近年来在基因检测方面取得了一定进展。文章主要介绍假肥大型肌营养不良基因携带者的基因检测方法 。
作者 牛国辉 麻宏伟
机构地区 中国医科大学第二临床学院遗传研究室
出处 《国外医学（儿科学分册）》 2004年第1期36-38,共3页 Foreign Medical Sciences（Section of Pediatrics)
关键词 假肥大型肌营养不良基因携带者 检测 研究进展 杂合子
分类号 R746.2 [医药卫生—神经病学与精神病学]
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参考文献18

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  • 2Fitzgerald KM, Cibis GW, Gettel AH, et al. ERG phenotype of a dystrophy mutation in heterozygeous female carriers of Duchenne muscular dystrophin[J]. J Med Genet,1999,36(4) :316-322.
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同被引文献7

  • 1康格非主编.临床生物化学和生物化学检验[M].第2版,北京:人民卫生出版社,1999:15.
  • 2Sbiti A, El Kerch F, Sefiani A. Analysis of dystrophin gene deletions by multiplex PCR in moroccan patients. J Biomed Biotechnol, 2002, 2(3): 158-160.
  • 3Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res, 1988, 16(23): 11141-11156.
  • 4Beggs AH, Koenig M, Boyce FM, et al. Detection of 98 % of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet, 1990, 86(1): 45-48.
  • 5Sironi M, Pozzoli U, Cagliani R, et al. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet, 2003 , 112(3): 272-288.
  • 6Mukherjee M, Chaturvedi LS, Srivastava S. De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.Exp Mol Med, 2003, 35(2): 113-117.
  • 7沈定国.进行性肌营养不良症.闲家级继续医学教育项目系列教材神经内科学分册[M].长春出版社,1999.145～162.

引证文献2

二级引证文献7

国外医学（儿科学分册）
2004年 第1期

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