CMT1A - Comparison of different techniques for detecting 17p12 duplication

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Neuromuscul Disord. 2005 Jun 4

Comparison of different techniques for detecting 17p12 duplication in

CMT1A.

Patitucci A, Muglia M, Magariello A, e AL, Peluso G, Sprovieri

T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F,

Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A.

Institute of Neurological Sciences, National Research Council, Piano

Lago di Mangone, Cosenza, Italy.

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.