Article
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency.
The Journal of biological chemistry - 25 Dec 1991
Gotoda T, Yamada N, Murase T, Inaba T, Ishibashi S, Shimano H, Koga S, Yazaki Y, Furuichi Y, Takaku F
Abstract excerpt
A donor splice site mutation was found in the lipoprotein lipase (LPL) gene of a patient with familial LPL deficiency. The mutation, a G----A substitution, occurred at the first nucleotide of intron 2. Northern blot analysis of total RNA from the patient showed strikingly low levels of LPL-specific mRNAs. Using the polymerase chain reaction, the LPL mRNA splicing was analyzed in detail. The results demonstrated...
Topics
- Adult
- Base Sequence
- Blotting, Northern
- DNA
- Humans
- Lipoprotein Lipase
- Macrophages
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction