Point mutation in the human dystrophin gene: Identification through Western blot analysis

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

“…1 DMD and BMD are both due to mutations in the dystrophin gene on Xp21. The severe DMD phenotype is associated with gross rearrangements (about 65% of cases) 2,3 and smaller mutations (the remaining 35% of cases) [3][4][5] which cause premature translational termination and consequently, absence of dystrophin from most ( > 98%) or all muscle cells. 6 The milder variant, BMD, shows a variable phenotype from a slightly less severe, DMD-like condition to very mild symptoms in patients who remain ambulant throughout their lives.…”

Preimplantation Diagnosis of Duchenne Muscular Dystrophy

“…Ten cases of nonsense mutation, 3 cases of single base deletion, one case of single base insertion, one case of donor site mutation, and one case of missense mutation were reported [23][24][25][26][27][28][29][30]. Once a mutation is identified in a family, a specific PCR based assay can be designed and the products can be analyzed by (1) PCR-RFLP; (2) PCR-single strand conformation polymorphism (PCR-SSCP); (3) PCR-Allele specific oligonucleotide (PCR-ASO); or (4) PCR-direct DNA sequencing.…”

“…At least 16 small mutations in the dystrophin gene have been uncovered. Ten cases of nonsense mutation [23,24,[26][27][28][29], 3 cases of single base deletion [25,28,30], one case of single base insertion [25], one case of donor site mutation [28], and one case of missense mutation [27] were reported.…”

“…Presumably, the deficiency is caused b y s m a l l m u t a t i o n s ( s i n g l e b a s e c h a n g e s , microdeletions, or microinsertions). Because of the enormously large size of the gene, the small mutations are more difficult to identify, require special approaches, a n d m u s t b e d i s t i n g u i s h e d f r o m h a r m l e s s polymorphisms [8,[23][24][25][26]. At least 16 small mutations in the dystrophin gene have been uncovered.…”

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

“…2,3 Exons 3,4,6,8,12,13,17,19,43, 44, 47, 50, 51, 52 and 60 were amplified either as triplex (A-C) or duplex sets (D-F) for each patient. Exons to be analysed together on a single SSCA gel were carefully selected according to their size and the location of their singlestranded patterns on the selected gel system.…”