Duchenne and Becker muscular dystrophies are among the most severe and frequent inherited
disorders. Being still incurable, medical treatment is concentrated on the carrier
diagnosis of the members of the affected families. Here we report the results of the
studies of 151 members of 41 Hungarian families, obtained with multiplex PCR amplification
of 18 exons as well as the muscle specific promoter region, and haplotype analysis
of two polymorphic (CA)n repeat microsatellite loci in introns 45 and 49 of the dystrophin
gene. The analysis of 15 deletion-type families revealed a frequency of new mutations
not differing significantly from that in the other regions of Europe. We also compared
the allele distributions of the two microsatellites in randomly selected normal individuals
and affected family members. The allele distribution of STRP45 shows interesting differences
between the two populations.
