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Volumn 27, Issue 3, 2012, Pages 274-280

Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea

Author keywords

Deletion; Duchenne becker muscular dystrophy; Duplication; Gene amplification

Indexed keywords

DYSTROPHIN;

EID: 84863254632     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2012.27.3.274     Document Type: Article
Times cited : (31)

References (30)
  • 1
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2: 731-40.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 2
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases: a world survey
    • Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991; 1: 19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 3
    • 23844539257 scopus 로고    scopus 로고
    • Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    • Prior TW, Bridgeman SJ. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005; 7: 317-26.
    • (2005) J Mol Diagn , vol.7 , pp. 317-326
    • Prior, T.W.1    Bridgeman, S.J.2
  • 4
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
    • Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 1990; 46: 682-95.
    • (1990) Am J Hum Genet , vol.46 , pp. 682-695
    • Hu, X.Y.1    Ray, P.N.2    Murphy, E.G.3    Thompson, M.W.4    Worton, R.G.5
  • 7
    • 0030016279 scopus 로고    scopus 로고
    • Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
    • Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996; 33: 550-8.
    • (1996) J Med Genet , vol.33 , pp. 550-558
    • Yau, S.C.1    Bobrow, M.2    Mathew, C.G.3    Abbs, S.J.4
  • 10
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16: 11141-56.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 11
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86: 45-8.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 13
    • 33746137427 scopus 로고    scopus 로고
    • Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
    • Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA). Clin Biochem 2006; 39: 367-72.
    • (2006) Clin Biochem , vol.39 , pp. 367-372
    • Lai, K.K.1    Lo, I.F.2    Tong, T.M.3    Cheng, L.Y.4    Lam, S.T.5
  • 14
    • 34250668773 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects
    • Hwa HL, Chang YY, Chen CH, Kao YS, Jong YJ, Chao MC, Ko TM. Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. J Formos Med Assoc 2007; 106: 339-46.
    • (2007) J Formos Med Assoc , vol.106 , pp. 339-346
    • Hwa, H.L.1    Chang, Y.Y.2    Chen, C.H.3    Kao, Y.S.4    Jong, Y.J.5    Chao, M.C.6    Ko, T.M.7
  • 15
    • 44149087381 scopus 로고    scopus 로고
    • Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations
    • Wang X, Wang Z, Yan M, Huang S, Chen TJ, Zhong N. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. Behav Brain Funct 2008; 4: 20.
    • (2008) Behav Brain Funct , vol.4 , pp. 20
    • Wang, X.1    Wang, Z.2    Yan, M.3    Huang, S.4    Chen, T.J.5    Zhong, N.6
  • 16
    • 33746125276 scopus 로고    scopus 로고
    • A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy
    • Lo IF, Lai KK, Tong TM, Lam ST. A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. Chin Med J (Engl) 2006; 119: 1079-87.
    • (2006) Chin Med J (Engl) , vol.119 , pp. 1079-1087
    • Lo, I.F.1    Lai, K.K.2    Tong, T.M.3    Lam, S.T.4
  • 19
    • 73249137367 scopus 로고    scopus 로고
    • Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them
    • Wu Y, Yin G, Fu K, Wu D, Zhai Q, Du H, Huang Z, Niu Y. Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them. J Clin Lab Anal 2009; 23: 380-6.
    • (2009) J Clin Lab Anal , vol.23 , pp. 380-386
    • Wu, Y.1    Yin, G.2    Fu, K.3    Wu, D.4    Zhai, Q.5    Du, H.6    Huang, Z.7    Niu, Y.8
  • 21
    • 78650618417 scopus 로고    scopus 로고
    • Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy
    • Song TJ, Lee KA, Kang SW, Cho H, Choi YC. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J 2011; 52: 192-5.
    • (2011) Yonsei Med J , vol.52 , pp. 192-195
    • Song, T.J.1    Lee, K.A.2    Kang, S.W.3    Cho, H.4    Choi, Y.C.5
  • 23
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 2005; 6: 29-35.
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5
  • 24
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: new techniques for detection of gene deletions
    • Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004; 23: 413-9.
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 27
    • 82055196671 scopus 로고    scopus 로고
    • Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies
    • Laing NG, Davis MR, Bayley K, Fletcher S, Wilton SD. Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies. Clin Biochem Rev 2011; 32: 129-34.
    • (2011) Clin Biochem Rev , vol.32 , pp. 129-134
    • Laing, N.G.1    Davis, M.R.2    Bayley, K.3    Fletcher, S.4    Wilton, S.D.5
  • 28
    • 51549110163 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    • del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008; 29: 1100-7.
    • (2008) Hum Mutat , vol.29 , pp. 1100-1107
    • del Gaudio, D.1    Yang, Y.2    Boggs, B.A.3    Schmitt, E.S.4    Lee, J.A.5    Sahoo, T.6    Pham, H.T.7    Wiszniewska, J.8    Chinault, A.C.9    Beaudet, A.L.10    Eng, C.M.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.