Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron.
For the first time in Bulgaria, a deletion/duplication screening was performed on a group of 84 unrelated Duchenne/Becker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplications in 2.4%. A peculiar distribution of deletion breakpoints was found. Only 13.2% of the deletion breakpoints fell in the "classical" hot spot in intron 44, whereas the majority (> 54%) were located within the segment encompassing introns 45-51, which includes intron 50, the richest in breakpoints (16%) in the Bulgarian sample. Comparison with data from Greece and Turkey points at the probable existence of a deletion hot spot within intron 50, which might be a characteristic of populations of the Balkan region.
Todoroya
A
A
Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia, Bulgaria.
Bronzova
J
J
Miorin
M
M
Rosa
M
M
Kremensky
I
I
Danieli
G A
GA
D002031:Bulgaria; D019457:Chromosome Breakage; D015331:Cohort Studies; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007438:Introns; D008297:Male; D005810:Multigene Family; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
D016189:Dystrophin