Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron
✍ Scribed by Todorova, Albena; Bronzova, Juliana; Miorin, Marta; Rosa, Maurizio; Kremensky, Ivo; Danieli, Gian Antonio
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 334 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
For the first time in Bulgaria, a deletion/ duplication screening was performed on a group of 84 unrelated Duchennemecker 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. @