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面肩肱型肌营养不良症的分子遗传学研究进展 被引量：2

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作者 张玮 熊符 苏全喜
机构地区 南方医科大学医学遗传学教研室 广州药学院附属第一医院神经内科
出处 《临床荟萃》 CAS 2010年第4期353-355,共3页 Clinical Focus
基金 广东省自然科学基金(8151008018000002)
关键词 肌营养不良 染色体 基因 诊断
分类号 R746.2 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献23

  • 1Tawil R. Facioscapulohumeral muscular dystrophy [J]. Neurotherapeutics, 2008,5 ( 4 ) : 601-606.
  • 2Wijmenga C, Frants RR, Brouwer OF, et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4[J]. Lancet,1990,336(8716) :651-653.
  • 3Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy[J]. Nat Genet,1992,2(1) :26-30.
  • 4Clapp J, Mitchell LM, Bolland DJ, et al. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy[J]. Am J Hum Genet,2007,81(2) :264-279.
  • 5Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioseapulohumeral muscular dystrophy, encodes a transcriptional activator of PITXI[J]. Proc Natl Acad Sci U S A,2007,104(46):18157-18162.
  • 6Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies[J]. EMBO J, 2008,27 (20) : 2766-2779.
  • 7Bosnakovski D, Lamb S, Simsek T, et al. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation [J]. Exp Neurol, 2008, 214 (1) :87-96.
  • 8Pirozhkova I,Petrov A,Dmitriev P,et al. A Functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy[J]. PLoS One, 2008,3 (10): e3389.
  • 9Gabellini D, D'Antona G, Moggio M, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 [J]. Nature,2006,439(7079):973-977.
  • 10Hanel MI., Wuebbles RD, Jones PL. Muscular dystrophy candidate gene FRG1 is critical for muscle development[J]. Dev Dyn,2009,238(6) :1502-1512.

二级参考文献9

  • 1Lunt PW, Harper PS. Genetic counseling in facioscapulohumeral muscular dystrophy. J Med Genet, 1991, 28:655-664.
  • 2Wijmenga C, Frants RR, Brouwer OF, et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet, 1990,336: 651-653.
  • 3van Deutekom JC, Wijmenga C, van Tienhoven EA, et al. FSHD associated rearrangements are due to deletions of integral copies of 3.2 kb tendamly repeated unit. Hum Mol Genet, 1993, 2: 2037-2042.
  • 4Felicetti L, Galluzzi G. Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements. Methods Mol Biol, 2003,217:153-164.
  • 5van Geel M, Dickson MC, Beck AF, et al. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics, 2002,79: 210-217.
  • 6Lemmers RJL, de Kievit P, van Geel M, et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol, 2001, 50: 816-819.
  • 7Tawil R, McDermott MP, Mendell JR, et al. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology, 1994, 44: 442-446.
  • 8Wang N, Yu L, Xu YF,et al. Four new Taq I polymorphisms detected by three subprobes from the dystrophin cDNA1-7. J Fudan Uni, 1995, 34:379-385.
  • 9Zatz M, Marie SK, Cerqueira A, et al. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet, 1998, 77: 155-161.

共引文献7

同被引文献10

  • 1苏全喜,申本昌,曾缨,卢锡林,谢有梅,李婉仪,张成.50例面肩肱型肌营养不良症的基因诊断与临床特征[J].中华神经医学杂志,2006,5(7):709-712. 被引量：5
  • 2Tawil R. Facioscapulohumeral muscular dystrophy [ J ] . Neurotherapeutics, 2008, 5 (4):601-606.
  • 3Angelucci F, Colantoni L. Facioscapulohumeral muscular dystrophy : do neurotrophins play a role? [ J ] . Muscle Nerve, 2010, 41 ( 1 ) : 120-127.
  • 4Wohlgemuth M, van der Kooi EL, van Kesteren RG, et al. Ventilatory support in facioscapulohumeral muscular dystrophy [ J ] . Neurology, 2004, 63 ( 1 ) : 176-178.
  • 5Clapp J, Mitchell LM, Bolland DJ, et al. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy [ J ] . Am J Hum Genet, 2007, 81 ( 2 ) : 264-279.
  • 6Lyle R, Wright TJ, Clark LN, et al. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes [ J ] . Genomics, 1995, 28 ( 3 ) : 389- 397.
  • 7Martinez-Serra J, Gutierrez A, Amat JC, et al. Rapid triplex asymmetric real-time PCR hybridization probe assay for the joint genotyping ofF2, F5 and F12 [ J ]. Clin Biochem, 2009, 42 ( 12 ): 1317-1324.
  • 8Morita M, Ito K, Hirose K, et al. Development of a real-time PCR assay for detection of gyrA mutations associated with reduced susceptibility to ciprofloxacin in Salmonella enterica serovar typhi and paratyphi A [ J ] . Microbiol Immunol, 2006, 50 ( 9 ) : 707-711.
  • 9苏全喜,李婉仪,张成,熊符,申本昌,洪铭范,卢锡林.实时荧光定量聚合酶链反应诊断面肩肱型肌营养不良[J].中华神经科杂志,2009,42(8):555-558. 被引量：4
  • 10曾缨,苏全喜,张为西,卢锡林,张成.面肩肱型肌营养不良症的早期诊断与症状前诊断[J].中国神经精神疾病杂志,2002,28(1):23-26. 被引量：8

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二级引证文献1

临床荟萃
2010年 第4期

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