Carrier detection by microsatellite analysis of Duchenne Becker muscular dystrophy in Hungarian families

Duchenne and Becker muscular dystrophies are among the most severe and freq uent inherited disorders. Being still incurable, medical treatment is conce ntrated on the carrier diagnosis of the members of the affected families. H ere we report the results of the studies of 151 members of 41 Hungarian fam ilies; obtained with multiplex PCR amplification of 18 exons as well as the muscle specific promoter region, and haplotype analysis of two polymorphic (CA)(n) repent 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 Eu rope. We also compared the allele distributions of the two microsatellites in randomly selected normal individuals and affected family members. The al lele distribution of STRP45 shows interesting: differences between the two populations.