Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

Biochemical and Biophysical Research Communications

Volumn 339, Issue 1, 2006, Pages 145-150

  Traverso, Monica ^a,b   Malnati, Mauro ^c   Minetti, Carlo ^a   Regis, Stefano ^b   Tedeschi, Silvana ^d   Pedemonte, Marina ^a   Bruno, Claudio ^a   Biassoni, Roberto ^b   Zara, Federico ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c San Raf faele Institute   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Carrier diagnosis; Deletions; Duchenne muscular dystrophy; Duplications; Real time PCR

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; X CHROMOSOME LINKAGE;

EID: 28144440030     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.11.006     Document Type: Article

References (18)

1. R.G. Worton, and M.W. Thompson Genetics of Duchenne muscular dystrophy Annu. Rev. Genet. 22 1988 601 629
2. S.M. Forrest, T.J. Smith, G.S. Cross, A.P. Read, N.S. Thomas, R.C. Mountford, P.S. Harper, R.T. Geirsson, and K.E. Davies Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy Lancet 2 1987 1294 1297
3. X.Y. Hu, A.H. Burghes, P.N. Ray, M.W. Thompson, E.G. Murphy, and R.G. Worton Partial gene duplication in Duchenne and Becker muscular dystrophies J. Med. Genet. 25 1988 369 376
4. X.Y. Hu, P.N. Ray, E.G. Murphy, M.W. Thompson, and R.G. Worton Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype genotype correlation Am. J. Hum. Genet. 46 1990 682 695
5. J.S. Chamberlain, R.A. Gibbs, J.E. Ranier, P.N. Nguyen, and C.T. Caskey Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification Nucleic Acids Res. 16 1988 11141 11156
6. A.H. Beggs, M. Koenig, F.M. Boyce, and L.M. Kunkel Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction Hum. Genet. 86 1990 45 48
7. B.T. Darras, M. Koenig, L.M. Kunkel, and U. Francke Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA Am. J. Med. Genet. 29 1988 713 726
8. M. Koenig, E.P. Hoffman, C.J. Bertelson, A.P. Monaco, C. Feener, and L.M. Kunkel Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals Cell 50 1987 509 517
9. A.H. Ligon, C.D. Kashork, C.S. Richards, and L.G. Shaffer Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach Eur. J. Hum. Genet. 8 2000 293 298
10. P.R. Clemens, R.G. Fenwick, J.S. Chamberlain, R.A. Gibbs, M. de Andrade, R. Chakrabarty, and C.T. Caskey Carrier detection and prenatal diagnosis in Duchenne and Becker dystrophy families, using dinucleotide repeat polymorphisms Am. J. Hum. Genet. 49 1991 951 960
11. S. Abbs, and M. Bobrow Analysis of quantitiave PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene J. Med. Genet. 29 1992 191 196
12. P. Fortina, J. Cheng, M.A. Shoffner, S. Surrey, W.M. Hitchcock, L.J. Kricka, and P. Wilding Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis Clin. Chem. 43 1997 745 751
13. S. White, M. Kalf, Q. Liu, M. Villerius, D. Engelsma, M. Kriek, E. Vollebregt, B. Bakker, G.S. van Ommen, M.H. Breuning, and J.T. den Dunnen Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization Am. J. Hum. Genet. 71 2002 365 374
14. V. Gatta, O. Scarciolla, A.R. Gaspari, C. Palka, M.V. De Angelis, A. Di Muzio, P. Guanciali-Franchi, G. Calabrese, A. Uncini, and L. Stuppia Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) Hum. Genet. 117 2005 92 98
15. F. Joncourt, B. Neuhaus, K. Jostarndt-Foegen, S. Kleinle, B. Steiner, and S. Gallati Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR Hum. Mutat. 23 2004 385 391
16. G. Frisso, A. Carsana, N. Tinto, G. Calcagno, F. Salvatore, and L. Sacchetti Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy Clin. Chem. 50 2004 1435 1438
17. t method. In: ABI Prism 7700 Sequence Detection System, User Bulletin 2, PE Applied Biosystems (1997) 11-15.
18. L.N. Sellner, and G.R. Taylor MLPA and MAPH: new techniques for detection of gene deletions Hum. Mutat. 23 2004 413 419