메뉴 건너뛰기




Volumn 41, Issue 2, 2000, Pages 69-74

Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan

Author keywords

Duchenne Becker muscular dystrophy; Fluorescent linkage analysis; Intragenic STR marker

Indexed keywords

DYSTROPHIN; FLUORESCENT DYE;

EID: 0034029171     PISSN: 00016578     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (21)
  • 1
    • 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
    • Koenig M, Huffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals Cell 1987; 50:509-17.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Huffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 2
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988, 53:219-28.
    • (1988) Cell , vol.53 , pp. 219-228
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 3
    • 0024815723 scopus 로고
    • Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
    • Den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989; 45:835-47.
    • (1989) Am J Hum Genet , vol.45 , pp. 835-847
    • Den Dunnen, J.T.1    Grootscholten, P.M.2    Bakker, E.3
  • 4
    • 0021358756 scopus 로고
    • Duchenne muscular dystrophy Pathogenetic aspects and genetic prevention
    • Moser H. Duchenne muscular dystrophy Pathogenetic aspects and genetic prevention Hum Genet 1984; 66: 17-40.
    • (1984) Hum Genet , vol.66 , pp. 17-40
    • Moser, H.1
  • 5
    • 0023957073 scopus 로고
    • Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
    • Forrest SM, Cross GS, Flint T, Speer A, Robson KJ, Davies KE. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 1988; 2:109-14.
    • (1988) Genomics , vol.2 , pp. 109-114
    • Forrest, S.M.1    Cross, G.S.2    Flint, T.3    Speer, A.4    Robson, K.J.5    Davies, K.E.6
  • 7
    • 0025257614 scopus 로고
    • Segregation analysis of 1885 DMD families. Significant departure from the expected proportion of sporadic cases
    • Barbujani G, Russo A, Danieli GA, Spiegler AWJ, Borkowska J, Petrusewicz IH Segregation analysis of 1885 DMD families. Significant departure from the expected proportion of sporadic cases Hum Genet 1990, 84 522-6.
    • (1990) Hum Genet , vol.84 , pp. 522-526
    • Barbujani, G.1    Russo, A.2    Danieli, G.A.3    Spiegler, A.W.J.4    Borkowska, J.5    Petrusewicz, I.H.6
  • 8
    • 0026062480 scopus 로고
    • DNA polymorphisms and deletion analysis of the Duchenne-Becker muscular dystrophy gene in the Chinese
    • Soong BW, Tsai TF, Su CH, Kao KP, Hsiao KJ, Su TS. DNA polymorphisms and deletion analysis of the Duchenne-Becker muscular dystrophy gene in the Chinese. Am J Med Genet 1991; 38:593-600
    • (1991) Am J Med Genet , vol.38 , pp. 593-600
    • Soong, B.W.1    Tsai, T.F.2    Su, C.H.3    Kao, K.P.4    Hsiao, K.J.5    Su, T.S.6
  • 9
    • 6744275939 scopus 로고    scopus 로고
    • Deletion analysis of Duchenne muscular dystrophy and Becker muscular dystrophy using polymerase chain reaction
    • Tsai CH, Lee CC, Tsai FJ, Liu SC Deletion analysis of Duchenne muscular dystrophy and Becker muscular dystrophy using polymerase chain reaction Med J CMCH 1996; 1 1-6
    • (1996) Med J CMCH , vol.1 , pp. 1-6
    • Tsai, C.H.1    Lee, C.C.2    Tsai, F.J.3    Liu, S.C.4
  • 10
    • 0021970088 scopus 로고
    • Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with Closely linked RFLPs
    • Bakker E, Hofker MH, Goor N, et al. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with Closely linked RFLPs Lancet 1985; 1 655-8.
    • (1985) Lancet , vol.1 , pp. 655-658
    • Bakker, E.1    Hofker, M.H.2    Goor, N.3
  • 11
    • 0023739265 scopus 로고
    • Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA
    • Darras BT, Francke U Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am J Hum Genet 1988; 43:612-9.
    • (1988) Am J Hum Genet , vol.43 , pp. 612-619
    • Darras, B.T.1    Francke, U.2
  • 12
    • 0019955810 scopus 로고
    • Potential Z-DNA forming sequences are highly dispersed in the human genome
    • Hamada H, Kakunaga T Potential Z-DNA forming sequences are highly dispersed in the human genome. Nature 1982, 298:396-8.
    • (1982) Nature , vol.298 , pp. 396-398
    • Hamada, H.1    Kakunaga, T.2
  • 13
    • 0021770546 scopus 로고
    • Simple sequences are ubiquitous repetitive components of eukaryotic genomes
    • Tautz D, Renz M. Simple sequences are ubiquitous repetitive components of eukaryotic genomes. Nucleic Acids Res 1984; 12:4127-38
    • (1984) Nucleic Acids Res , vol.12 , pp. 4127-4138
    • Tautz, D.1    Renz, M.2
  • 14
    • 0025943652 scopus 로고
    • Carrier detection and prenatal diagonosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens PR, Fenwick RG, Chamberlain JS, et al. Carrier detection and prenatal diagonosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991, 49:951-60.
    • (1991) Am J Hum Genet , vol.49 , pp. 951-960
    • Clemens, P.R.1    Fenwick, R.G.2    Chamberlain, J.S.3
  • 15
    • 0025141685 scopus 로고
    • An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene
    • Oudet C, Heilig R, Mandel JL. An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene Hum Genet 1990; 84 283-5.
    • (1990) Hum Genet , vol.84 , pp. 283-285
    • Oudet, C.1    Heilig, R.2    Mandel, J.L.3
  • 16
    • 0025968910 scopus 로고
    • Rapid detection of CA polymorphisms in cloned DNA: Application to the 5′ region of the dystrophin gene
    • Feener CA, Boyce FM, Kunkel LM. Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. Am J Hum Genet 1991; 48 621-7.
    • (1991) Am J Hum Genet , vol.48 , pp. 621-627
    • Feener, C.A.1    Boyce, F.M.2    Kunkel, L.M.3
  • 17
    • 0025317962 scopus 로고
    • A polymorphic CACA repeat in the 3′ untranslated region of dystrophin
    • Beggs AH, Kunkel LM A polymorphic CACA repeat in the 3′ untranslated region of dystrophin Nucleic Acids Res 1990; 18:1931.
    • (1990) Nucleic Acids Res , vol.18 , pp. 1931
    • Beggs, A.H.1    Kunkel, L.M.2
  • 18
    • 0004683115 scopus 로고    scopus 로고
    • PCR Techniques for deletion, linkage, and mutation analysis in Duchenne/Becker muscular dystrophy
    • Elles R eds. New Jersey. Humana Press
    • Mountford R PCR Techniques for deletion, linkage, and mutation analysis in Duchenne/Becker muscular dystrophy In Elles R eds. Molecular diagnosis of genetic diseases. New Jersey. Humana Press, 1996,17-35
    • (1996) Molecular Diagnosis of Genetic Diseases , pp. 17-35
    • Mountford, R.1
  • 19
    • 1842277946 scopus 로고
    • Correlation of heterozygosity and the number of alleles in different frequency classes
    • Chakraborty R, Griffiths RC. Correlation of heterozygosity and the number of alleles in different frequency classes. Theor Popul Biol 1982, 21:205-18
    • (1982) Theor Popul Biol , vol.21 , pp. 205-218
    • Chakraborty, R.1    Griffiths, R.C.2
  • 20
    • 0025161205 scopus 로고
    • Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
    • Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 1990; 7:602-6
    • (1990) Genomics , vol.7 , pp. 602-606
    • Abbs, S.1    Roberts, R.G.2    Mathew, C.G.3    Bentley, D.R.4    Bobrow, M.5
  • 21
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
    • Oudet C, Hanauer H, Clemens P, Caskey T, Mandel JL. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1992; 1 599-603.
    • (1992) Hum Mol Genet , vol.1 , pp. 599-603
    • Oudet, C.1    Hanauer, H.2    Clemens, P.3    Caskey, T.4    Mandel, J.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.