期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

对用多重连接探针扩增检出的假肥大型肌营养不良症基因单个外显子缺失的鉴别诊断 被引量：4

原文传递
导出
摘要 假肥大型肌营养不良（duchenne muscular dystrophy,DMD）是X染色体隐性致死性遗传病,发病率约为1/3 500男性活婴,进行性肌萎缩和肌无力伴小腿腓肠肌假性肥大是其典型的临床特征,主要累及青少年男性,一般在12岁以前丧失站立和行走的能力,最后因心肌和呼吸肌无力而于20岁前死于心力衰竭或呼吸衰竭,严重影响了青少年的健康成长.本病是由于编码抗肌萎缩蛋白（dystrophin）的DMD基因突变所引起,DMD基因是人类最大的基因之一,含有79个外显子,编码14kbmRNA的转录.DMD患者中约55％～65％是该基因部分外显子缺失,5％～10％为基因重复导致,其余约25％是DMD基因点突变引起[1].本病至今无特异性治疗方法,只能对症治疗和支持治疗.寻找有效的方法治疗DMD一直是神经病学界研究的热点话题.
作者 黎青 李少英 何文智 张慧敏 马晓燕 冼嘉嘉 王晓蔓 孙筱放 陈敦金
机构地区 广州医科大学附属第三医院妇产科研究所实验部
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2014年第3期207-209,共3页 Chinese Journal of Laboratory Medicine
基金 广州市科技计划项目战略性新兴产业重大专项资助课题（2011Y1-00039）
关键词 假肥大型肌营养不良症 基因突变 外显子 鉴别诊断 DMD基因 呼吸肌无力 扩增 探针
分类号 R596.1 [医药卫生—内科学]
  • 相关文献

参考文献10

  • 1张成.假肥大型肌营养不良症[M]//陆国辉.临床遗传咨询.北京:北京大学医学出版社,2007:272-275.
  • 2Innis MA,Gelt DH , Srinsky JJ, et al. PCR protocols:a guide to methods and applications[ M ]. New York:Academic Press, 1990: 272-277.
  • 3Beggs AH, Koenig M, Boyce FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaetionE J]. Hum Genet, 1990, 86:45-48.
  • 4Li Q, Li SY, Hu DG, et al. Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy [ N ]. Beijing Da Xue Xue Bao, 2006, 38:53-56.
  • 5周大文,任兆瑞.多重连接探针扩增技术及其应用[J].中华医学遗传学杂志,2009,26(1):45-49. 被引量：15
  • 6Wang Q, Li-Ling J, Lin C, et al. Characteristics of dystrophin gene mutations among Chinese patients as revealed by multiplex ligation-dependent probe amplification [ J ]. Genet Test Mol Biomarkers, 2009, 13: 23-30.
  • 7Beroud C, Tuffery-Giraud S, Matsuo M, et al. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy [ J ]. Hum Mutat, 2007, 28 : 196- 202.
  • 8Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codon in a mammalian translation system [ J ]. RNA, 2000, 6: 1044-1055.
  • 9Pehz SW, Morsy M, Welch EM, et al. Ataluren as an agent for therapeutic nonsense suppression[ J]. Annu Rev Med,2013,64 : 407-425.
  • 10Shiozuka M, Matsuda R. Therapeutic readthrough strategy for suppression of nonsense mutations in duchenne muscular dystrophy [J]. Brain Nerve, 2011,63:1253-1260.

二级参考文献55

  • 1Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation- dependent probe amplification. Nucleic Acids Res, 2002, 30 : e57.
  • 2Kirehhof M, Bisgaard AM,Bryndorf T, et al .MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5. 8% of patients tll mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J IVied Genet, 2007,50 : 33 -42.
  • 3Slater H, Bruno D, Ren H, et al. Improved testing for CMTIA and HNPP using multiplex ligation dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphaseFISH method. Hum Mutat,2004,24 :164-171.
  • 4Martinez-Glez V, Lorda Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated th subtelomeric 6p deletion. Eur J Med Genet ,2007,5 : 120-127.
  • 5Sivertsen A, Lie RT, Wilcox AJ, et al. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a populationbased sample of infants with cleft palate. Am J Med Genet A,2007,143 : 129- 134.
  • 6Eldering E,Spek CA, Aherson HL, et al. Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signaling pathways. Nucleic Acids Res, 2003,31 : e153.
  • 7Spek CA, Verhon A, Aherson H,et al. Treatment with an anti- CD14 monoclonal antibody delays and inhibits lipopolysaccharide- induced gene expression in humans in vivo. J Clin Immunol, 2003, 23 : 132-140.
  • 8Nygren AO, Ameziane N, Duarte HM, et al. Methylation-specific MLPA (MS-MLPA) = simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res,2005,33 : e128.
  • 9Henken FE, Wilting SM, Overmeer RM, et al. Sequential gene promoter methylation during HPV-induced cervical carcinogenesis. Br J Cancer, 2007, 97: 1457-1464.
  • 10Takata M, Lin J, Takayanagi S, et al. Genetic and epigenetic alterations in the differential diagnosis of malignant melanoma and spitzoid lesion. Br J Dermatol, 2007, 156 : 1287-1294.

共引文献14

同被引文献43

引证文献4

二级引证文献16

中华检验医学杂志
2014年 第3期

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