Article
Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants.
The international journal of biochemistry & cell biology - 1 Oct 2017
Cardiero Giovanna, Scarano Clelia, Musollino Gennaro, Di Noce Francesca, Prezioso Romeo, Dembech Sabrina, La Porta Gaetana, Caldora Mercedes, Bisconte Maria Grazia, Colella Bisogno Rosario, Lacerra Giuseppina
Abstract excerpt
α-thalassemia is a common disease characterized mainly by deletion mutants. We identified two new α-thalassemia pointform mutants: α1cod22 GGC>GGT Gly>Gly creating a 5' splicing sequence and α1cod23 GAG>TAG Glu>stop. We performed qualitative and semi-quantitative analysis of the mRNA molecules, from carriers' blood, to define the molecular mechanisms giving rise to the thalassemia phenotype. In vitro analysis...
Topics
- Alternative Splicing
- Base Sequence
- Female
- HeLa Cells
- Humans
- Male
- Mutation
- Nonsense Mediated mRNA Decay
- Pedigree
- RNA, Messenger
- alpha-Globins
- alpha-Thalassemia