Comparison of different techniques for detecting 17p12 duplication in CMT1A. (Articolo in rivista)

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  • Comparison of different techniques for detecting 17p12 duplication in CMT1A. (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.nmd.2005.04.006 (literal)
Alternative label
  • Patitucci A 1, Muglia M 1, Magariello A 1, Gabriele AL 1, Peluso G 1, Sprovieri T 1, Conforti FL1 , Mazzei R 1, Ungaro C 1, Condino F1, Valentino P 2, Bono F2, Rodolico C 3, Mazzeo A 3, Toscano A 3, Vita G 3, Quattrone A.1 2 (2005)
    Comparison of different techniques for detecting 17p12 duplication in CMT1A.
    in Neuromuscular disorders
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Patitucci A 1, Muglia M 1, Magariello A 1, Gabriele AL 1, Peluso G 1, Sprovieri T 1, Conforti FL1 , Mazzei R 1, Ungaro C 1, Condino F1, Valentino P 2, Bono F2, Rodolico C 3, Mazzeo A 3, Toscano A 3, Vita G 3, Quattrone A.1 2 (literal)
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  • 488 (literal)
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  • 492 (literal)
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  • 15 (literal)
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  • ISI Web of Science (WOS) (literal)
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  • 1 Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone- Cosenza, Italy; 2 Institute of Neurology, University “Magna Graecia”, Catanzaro, Italy; 3 Department of Neurology, University of Messina, Italy. (literal)
Titolo
  • Comparison of different techniques for detecting 17p12 duplication in CMT1A. (literal)
Abstract
  • Charcot-Marie-Tooth type 1A is caused by a 1.5Mb DNA duplication in the 17p12 chromosomal region encompassing the peripheral myelin protein 22 gene. In the present study, we compared the Real-Time PCR with the other methods currently used for the diagnosis of Charcot-Marie-Tooth. By using a combination of junction fragment PCR, analysis of microsatellite markers, and pulsed field gel electrophoresis, we identified 76 unrelated patients with 17p12 duplication. In these patients, junction fragment PCR detected 63% of cases of duplication, the microsatellite markers method revealed 74%, while the combined use of microsatellite markers and junction fragment PCR revealed 91% of cases of Charcot-Marie-Tooth type 1A. Pulsed field gel electrophoresis detected 100% of the cases with duplication, even in presence of atypical 17p12 duplication. Real-Time PCR detected 100% of the cases with Charcot-Marie-Tooth type 1A and was comparable to pulsed field gel electrophoresis. However, in contrast to pulsed field gel electrophoresis, Real-Time PCR does not need fresh blood, minimizes diagnosis time and cost, and thus can be easily used for the molecular diagnosis of Charcot-Marie-Tooth type 1A. (literal)
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