메뉴 건너뛰기




Volumn 42, Issue 12, 2009, Pages 1291-1299

Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD/BMD carriers

Author keywords

Carrier detection; Deletion mutation; Duchenne muscular dystrophy; Quantitative real time PCR

Indexed keywords

DYSTROPHIN;

EID: 67650741722     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.04.016     Document Type: Article
Times cited : (21)

References (25)
  • 1
    • 0024154743 scopus 로고
    • Genetics of Duchenne muscular dystrophy
    • Worton R.G., and Thompson M.W. Genetics of Duchenne muscular dystrophy. Annu. Rev. Genet. 22 (1988) 601-629
    • (1988) Annu. Rev. Genet. , vol.22 , pp. 601-629
    • Worton, R.G.1    Thompson, M.W.2
  • 2
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
    • Hu X.Y., Ray P.N., Murphy E.G., Thompson M.W., and Worton R.G. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am. J. Hum. Genet. 46 (1990) 682-695
    • (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
  • 4
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain J.S., Gibbs R.A., Ranier J.E., Nguyen P.N., and Caskey C.T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16 (1988) 11141-11156
    • (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
  • 5
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs A.H., Koenig M., Boyce F.M., and Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86 (1990) 45-48
    • (1990) Hum. Genet. , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 6
    • 0035375909 scopus 로고    scopus 로고
    • Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy
    • Panigrahi I., and Mittal B. Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. Indian Pediatr. 38 (2001) 631-639
    • (2001) Indian Pediatr. , vol.38 , pp. 631-639
    • Panigrahi, I.1    Mittal, B.2
  • 8
    • 0025305811 scopus 로고
    • Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies
    • Prior T.W., Friedman K.J., Highsmith Jr. W.E., Perry T.R., and Silverman L.M. Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies. Clin. Chem. 36 (1990) 441-445
    • (1990) Clin. Chem. , vol.36 , pp. 441-445
    • Prior, T.W.1    Friedman, K.J.2    Highsmith Jr., W.E.3    Perry, T.R.4    Silverman, L.M.5
  • 10
    • 0026343877 scopus 로고
    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • Roberts R.G., Barby T.F., Manners E., Bobrow M., and Bentley D.R. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am. J. Hum. Genet. 49 (1991) 298-310
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 298-310
    • Roberts, R.G.1    Barby, T.F.2    Manners, E.3    Bobrow, M.4    Bentley, D.R.5
  • 12
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: new techniques for detection of gene deletions
    • Sellner L.N., and Taylor G.R. MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23 (2004) 413-419
    • (2004) Hum. Mutat. , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 15
    • 0344012538 scopus 로고    scopus 로고
    • Real-time polymerase chain reaction
    • Wilhelm J., and Pingoud A. Real-time polymerase chain reaction. Chembiochem 4 (2003) 1120-1128
    • (2003) Chembiochem , vol.4 , pp. 1120-1128
    • Wilhelm, J.1    Pingoud, A.2
  • 16
    • 28544451004 scopus 로고    scopus 로고
    • Duplication and deletion analysis by fluorescent real-time PCR-based genotyping
    • Ruiz-Ponte C., Carracedo A., and Barros F. Duplication and deletion analysis by fluorescent real-time PCR-based genotyping. Clin. Chim. Acta 363 (2006) 138-146
    • (2006) Clin. Chim. Acta , vol.363 , pp. 138-146
    • Ruiz-Ponte, C.1    Carracedo, A.2    Barros, F.3
  • 17
    • 0028834086 scopus 로고
    • Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
    • Livak K.J., Flood S.J., Marmaro J., Giusti W., and Deetz K. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Appl. 4 (1995) 357-362
    • (1995) PCR Methods Appl. , vol.4 , pp. 357-362
    • Livak, K.J.1    Flood, S.J.2    Marmaro, J.3    Giusti, W.4    Deetz, K.5
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 (1988) 1215
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method
    • Livak K.J., and Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25 (2001) 402-408
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 23
    • 33748066684 scopus 로고    scopus 로고
    • Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis
    • Liu J., Yan M., Wang Z., Wang L., Zhou Y., and Xiao B. Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis. Transl. Res. 148 (2006) 6-12
    • (2006) Transl. Res. , vol.148 , pp. 6-12
    • Liu, J.1    Yan, M.2    Wang, Z.3    Wang, L.4    Zhou, Y.5    Xiao, B.6
  • 24
    • 59149104617 scopus 로고    scopus 로고
    • Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives
    • Piko H., Vancso V., Nagy B., Ban Z., Herczegfalvi A., and Karcagi V. Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. Neuromuscul. Disord. 19 (2009) 108-112
    • (2009) Neuromuscul. Disord. , vol.19 , pp. 108-112
    • Piko, H.1    Vancso, V.2    Nagy, B.3    Ban, Z.4    Herczegfalvi, A.5    Karcagi, V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.