Article
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Journal of medical genetics - 1 Aug 2009
Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M
Abstract excerpt
BACKGROUND: Splicing patterns are critical for assessing clinical phenotype of mutations in the dystrophin gene. However, it is still unclear how to predict alternative splicing pathways in such cases of splice-site mutation in the dystrophin gene. OBJECTIVE: To identify elements determining alternative splicing pathways in intron +1G-->A mutations of the dystrophin gene. RESULTS: We found that exon 25 is spliced...
Topics
- DNA Mutational Analysis
- Dystrophin
- Exons
- Humans
- Introns
- Muscular Dystrophy, Duchenne
- Point Mutation
- Polymorphism, Single Nucleotide
- Protein Isoforms
- RNA Splicing