Deletion screening and carrier detection in Duchenne muscular dystrophy in polish population via direct analysis of DNA and RNA transcripts

摘要

Analysis of 102 Polish Duchenne/Becker muscular dystrophy (D/BMD) patients was performed by‘multiplex' amplification of 22 fragments of the DMD/BMD gene and deletions were found in 55/100 of the patients. The data obtained using PCR were compared with results of 25 Southern blotting and hybridization experiments with cDNA probes and with imunostaining using anti-dystrophin antibodies.