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Volumn 44, Issue 1, 2016, Pages 99-108

Distribution of dystrophin gene deletions in a Chinese population

Author keywords

accurate multiplex polymerase chain reaction; Becker muscular dystrophy; Duchenne muscular dystrophy; dystrophin gene; exon deletion

Indexed keywords

DYSTROPHIN;

EID: 84958684596     PISSN: 03000605     EISSN: 14732300     Source Type: Journal    
DOI: 10.1177/0300060515613223     Document Type: Article
Times cited : (10)

References (37)
  • 1
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases–a world survey
    • A.E.Emery. Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord1991; 1: 19–29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 2
    • 0025729071 scopus 로고
    • Prevalence and incidence of Becker muscular dystrophy
    • K.M.BushbyM.ThambyayahD.Gardner-Medwin. Prevalence and incidence of Becker muscular dystrophy. Lancet1991; 337: 1022–1024.
    • (1991) Lancet , vol.337 , pp. 1022-1024
    • Bushby, K.M.1    Thambyayah, M.2    Gardner-Medwin, D.3
  • 3
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • M.KoenigE.P.HoffmanC.J.Bertelson. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell1987; 50: 509–517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3
  • 4
    • 0023741379 scopus 로고
    • Patterns of exon deletions in Duchenne and Becker muscular dystrophy
    • A.P.ReadR.C.MountfordS.M.Forrest. Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum Genet1988; 80: 152–156.
    • (1988) Hum Genet , vol.80 , pp. 152-156
    • Read, A.P.1    Mountford, R.C.2    Forrest, S.M.3
  • 5
    • 84925286862 scopus 로고    scopus 로고
    • MLPA based detection of mutations in the dystrophin gene of 180 polish families with Duchenne/Becker muscular dystrophy
    • J.G.ZimowskiD.MassalskaM.Holding. MLPA based detection of mutations in the dystrophin gene of 180 polish families with Duchenne/Becker muscular dystrophy. Neurol Neurochir Pol2014; 48: 416–422.
    • (2014) Neurol Neurochir Pol , vol.48 , pp. 416-422
    • Zimowski, J.G.1    Massalska, D.2    Holding, M.3
  • 6
    • 0023957073 scopus 로고
    • Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
    • S.M.ForrestG.S.CrossT.Flint. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics1988; 2: 109–114.
    • (1988) Genomics , vol.2 , pp. 109-114
    • Forrest, S.M.1    Cross, G.S.2    Flint, T.3
  • 7
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • J.S.ChamberlainR.A.GibbsJ.E.Ranier. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res1988; 16: 11141–11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3
  • 9
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • A.H.BeggsM.KoenigF.M.Boyce. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet1990; 86: 45–48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3
  • 11
    • 0034437189 scopus 로고    scopus 로고
    • Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies
    • L.K.EffatA.A.El-HarouniK.S.Amr. Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies. Dis Markers2000; 16: 125–129.
    • (2000) Dis Markers , vol.16 , pp. 125-129
    • Effat, L.K.1    El-Harouni, A.A.2    Amr, K.S.3
  • 12
    • 0034985854 scopus 로고    scopus 로고
    • Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
    • I.HrdlickaJ.ZadinaR.Krejci. Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries). Folia Biol (Praha)2001; 47: 81–87.
    • (2001) Folia Biol (Praha) , vol.47 , pp. 81-87
    • Hrdlicka, I.1    Zadina, J.2    Krejci, R.3
  • 13
    • 0345454807 scopus 로고    scopus 로고
    • Analysis of dystrophin gene deletions by multiplex PCR in Moroccan patients
    • A.SbitiF.El KerchA.Sefiani. Analysis of dystrophin gene deletions by multiplex PCR in Moroccan patients. J Biomed Biotechnol2002; 2: 158–160.
    • (2002) J Biomed Biotechnol , vol.2 , pp. 158-160
    • Sbiti, A.1    El Kerch, F.2    Sefiani, A.3
  • 14
    • 0036956615 scopus 로고    scopus 로고
    • Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy
    • M.Al-JumahR.MajumdarS.Al-Rajeh. Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy. Saudi Med J2002; 23: 1478–1482.
    • (2002) Saudi Med J , vol.23 , pp. 1478-1482
    • Al-Jumah, M.1    Majumdar, R.2    Al-Rajeh, S.3
  • 15
    • 33845440933 scopus 로고    scopus 로고
    • Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal
    • K.D.Hallwirth PillayP.L.BillS.Madurai. Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal. J Neurol Sci2007; 252: 1–3.
    • (2007) J Neurol Sci , vol.252 , pp. 1-3
    • Hallwirth Pillay, K.D.1    Bill, P.L.2    Madurai, S.3
  • 16
    • 40949143249 scopus 로고    scopus 로고
    • Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients
    • M.J.HassanS.MahmoodG.Ali. Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients. Pediatr Int2008; 50: 162–166.
    • (2008) Pediatr Int , vol.50 , pp. 162-166
    • Hassan, M.J.1    Mahmood, S.2    Ali, G.3
  • 17
    • 55449128332 scopus 로고    scopus 로고
    • Sensitivity and frequencies of dystrophin gene mutations in Thai DMD/BMD patients as detected by multiplex PCR
    • T.SuraJ.Eu-ahsunthornwattanaS.Pingsuthiwong. Sensitivity and frequencies of dystrophin gene mutations in Thai DMD/BMD patients as detected by multiplex PCR. Dis Markers2008; 25: 115–121.
    • (2008) Dis Markers , vol.25 , pp. 115-121
    • Sura, T.1    Eu-ahsunthornwattana, J.2    Pingsuthiwong, S.3
  • 18
    • 70849086143 scopus 로고    scopus 로고
    • Deletional mutations of dystrophin gene and carrier detection in eastern India
    • J.BasakU.B.DasguptaS.C.Mukherjee. Deletional mutations of dystrophin gene and carrier detection in eastern India. Indian J Pediatr2009; 76: 1007–1012.
    • (2009) Indian J Pediatr , vol.76 , pp. 1007-1012
    • Basak, J.1    Dasgupta, U.B.2    Mukherjee, S.C.3
  • 19
    • 77953701827 scopus 로고    scopus 로고
    • Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients
    • A.MadaniaH.ZarzourR.A.Jarjour. Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients. Clin Biochem2010; 43: 836–842.
    • (2010) Clin Biochem , vol.43 , pp. 836-842
    • Madania, A.1    Zarzour, H.2    Jarjour, R.A.3
  • 20
    • 84879627776 scopus 로고    scopus 로고
    • Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India
    • L.J.BasumataryM.DasM.Goswami. Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. J Neurosci Rural Pract2013; 4: 227–229.
    • (2013) J Neurosci Rural Pract , vol.4 , pp. 227-229
    • Basumatary, L.J.1    Das, M.2    Goswami, M.3
  • 21
    • 84889248320 scopus 로고    scopus 로고
    • Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients
    • V.K.TranV.T.TaD.C.Vu. Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. J Neurogenet2013; 27: 170–175.
    • (2013) J Neurogenet , vol.27 , pp. 170-175
    • Tran, V.K.1    Ta, V.T.2    Vu, D.C.3
  • 22
    • 84889643350 scopus 로고    scopus 로고
    • Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa
    • R.KerrC.RobinsonF.B.Essop. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J2013; 103(12 Suppl 1): 999–1004.
    • (2013) S Afr Med J , vol.103 , Issue.12 , pp. 999-1004
    • Kerr, R.1    Robinson, C.2    Essop, F.B.3
  • 23
    • 84929311161 scopus 로고    scopus 로고
    • Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset
    • N.NouriE.Fazel-NajafabadiM.Salehi. Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset. Adv Biomed Res2014; 3: 72–72.
    • (2014) Adv Biomed Res , vol.3 , pp. 72
    • Nouri, N.1    Fazel-Najafabadi, E.2    Salehi, M.3
  • 24
    • 84906230127 scopus 로고    scopus 로고
    • Duchenne/Becker muscular dystrophy: a report on clinical, biochemical, and genetic study in Gujarat population, India
    • M.V.RaoG.M.SindhavJ.J.Mehta. Duchenne/Becker muscular dystrophy: a report on clinical, biochemical, and genetic study in Gujarat population, India. Ann Indian Acad Neurol2014; 17: 303–307.
    • (2014) Ann Indian Acad Neurol , vol.17 , pp. 303-307
    • Rao, M.V.1    Sindhav, G.M.2    Mehta, J.J.3
  • 25
    • 0025774523 scopus 로고
    • A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods
    • S.AbbsS.C.YauS.Clark. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet1991; 28: 304–311.
    • (1991) J Med Genet , vol.28 , pp. 304-311
    • Abbs, S.1    Yau, S.C.2    Clark, S.3
  • 26
    • 84941802622 scopus 로고    scopus 로고
    • MLPA application in clinical diagnosis of DMD/BMD in Shanghai
    • X.JiJ.ZhangY.Xu. MLPA application in clinical diagnosis of DMD/BMD in Shanghai. J Clin Lab Anal2014; 29: 405–411.
    • (2014) J Clin Lab Anal , vol.29 , pp. 405-411
    • Ji, X.1    Zhang, J.2    Xu, Y.3
  • 27
    • 0343238185 scopus 로고    scopus 로고
    • Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
    • S.OnengütG.N.KavaslarE.Battaloğlu. Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. Ann Hum Genet2000; 64(pt 1): 33–40.
    • (2000) Ann Hum Genet , vol.64 , pp. 33-40
    • Onengüt, S.1    Kavaslar, G.N.2    Battaloğlu, E.3
  • 28
    • 0036033570 scopus 로고    scopus 로고
    • Comparative study on deletions of the dystrophin gene in three Asian populations
    • P.S.LaiY.TakeshimaK.Adachi. Comparative study on deletions of the dystrophin gene in three Asian populations. J Hum Genet2002; 47: 552–555.
    • (2002) J Hum Genet , vol.47 , pp. 552-555
    • Lai, P.S.1    Takeshima, Y.2    Adachi, K.3
  • 29
    • 0031049169 scopus 로고    scopus 로고
    • Are there ethnic differences in deletions in the dystrophin gene?
    • M.BanerjeeI.C.Verma. Are there ethnic differences in deletions in the dystrophin gene?Am J Med Genet1997; 68: 152–157.
    • (1997) Am J Med Genet , vol.68 , pp. 152-157
    • Banerjee, M.1    Verma, I.C.2
  • 30
    • 64249113041 scopus 로고    scopus 로고
    • Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy
    • C.CunniffJ.AndrewsF.J.Meaney. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol2009; 24: 425–430.
    • (2009) J Child Neurol , vol.24 , pp. 425-430
    • Cunniff, C.1    Andrews, J.2    Meaney, F.J.3
  • 31
    • 0027195244 scopus 로고
    • Patterns of deletions of the dystrophin gene in different European populations
    • G.A.DanieliF.MioniC.R.Müller. Patterns of deletions of the dystrophin gene in different European populations. Hum Genet1993; 91: 342–346.
    • (1993) Hum Genet , vol.91 , pp. 342-346
    • Danieli, G.A.1    Mioni, F.2    Müller, C.R.3
  • 32
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • A.P.MonacoC.J.BertelsonS.Liechti-Gallati. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics1988; 2: 90–95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3
  • 33
    • 77954158696 scopus 로고    scopus 로고
    • Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
    • Y.TakeshimaM.YagiY.Okizuka. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet2010; 55: 379–388.
    • (2010) J Hum Genet , vol.55 , pp. 379-388
    • Takeshima, Y.1    Yagi, M.2    Okizuka, Y.3
  • 34
    • 33746766278 scopus 로고    scopus 로고
    • Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule
    • A.Aartsma-RusJ.C.Van DeutekomI.F.Fokkema. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve2006; 34: 135–144.
    • (2006) Muscle Nerve , vol.34 , pp. 135-144
    • Aartsma-Rus, A.1    Van Deutekom, J.C.2    Fokkema, I.F.3
  • 35
    • 84940023425 scopus 로고    scopus 로고
    • DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
    • R.GuoG.ZhuH.Zhu. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. J Hum Genet2015; 60: 435–442.
    • (2015) J Hum Genet , vol.60 , pp. 435-442
    • Guo, R.1    Zhu, G.2    Zhu, H.3
  • 36
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    • F.MuntoniS.TorelliA.Ferlini. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol2003; 2: 731–740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 37
    • 80054720841 scopus 로고    scopus 로고
    • Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
    • F.MagriA.GovoniM.G.D’Angelo. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol2011; 258: 1610–1623.
    • (2011) J Neurol , vol.258 , pp. 1610-1623
    • Magri, F.1    Govoni, A.2    D’Angelo, M.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.