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- 저자 : Amira Cherrallah (검색결과 1 건)
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Amira Cherrallah,Tarik Hamadouche,Traki Benhassine,Sonia Nouioua,Samira Makri,Malika Chaouch,Meriem Tazir 한국유전학회 2014 Genes & Genomics Vol.36 No.1
Duchenne and Becker muscular dystrophies(DMD and BMD) represent the most frequent neuromusculardiseases in humans (1/3,500–6,000 live male births),characterized by an X-linked recessive pattern of inheritanceand therefore affecting mainly male individuals. DMD and BMD are allelic disorders resulting from geneticdefects, mostly intragenic deletions, in the dystrophin gene. Using multiplex polymerase chain reaction (PCR), we haveanalyzed 170 male patients from unrelated families originatingfrom Algeria, showing that 68 % of them harboreddeletion events affecting the known 50 or 30 hot spotregions. The distal portion was predominantly involved(85 %), whereas 37 distinctive patterns of deletion wereidentified in our panel. The extent of deletion varied from 1to 32 exons, although the average number was about fourexons. The lack of seven exons (45, 46, 47, 48, 50, 51 and 52), each alone or in combination, represented about 78 %of the alterations encountered, while exon 48 was mostfrequently involved (50 %). The effect of the deletionsshowed that the reading frame rule proved mostly true,correlating with the clinical diagnosis suggested. Moreover,the c.525delT mutation in the c-sarcoglycan gene waspresent in non-deleted patients (7 %), suggesting thatclinical features can still be misleading. Finally, multiplexPCR proved to be a simple, fast and low-cost approach forthe molecular diagnosis of dystrophinopathies in Algeria,whereas our data could contribute to the creation of anational registry of DMD/BMD patients in our country,which would give them hope to an access to alreadyavailable genotype-based therapies.
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