Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD and BMD) are severe and mild phenotypes, respectively, of the mutated dystrophin gene. Based on the frameshift theory, an out-of-frame deletion causes DMD, while an in-frame deletion causes BMD. Amplification of deletion-prone exons by polymerase chain reaction (PCR) has been used for the screening of deletion mutations of the dystrophin gene. However, it is difficult...

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