[Problems found in genetic diagnosis of DMD/BMD]

Abstract

The method to understand the result of the multiplex PCR amplification of the dystrophin gene has been discussed. In dystrophin Kobe, a very small intra-exon deletion was identified in exon 19 when the amplified product was not detected in its corresponding position. Also, an insertion mutation was identified in exon 44 of the dystrophin gene named dystrophin Yakumo. In this case the amplified product from exon 44 was not localized to the its expected position, but a larger fragment was identified. In one case of BMD all exons were amplified by multiplex PCR. However, thorough examination disclosed the presence of point mutation at the last nucleotide of exon 13.