Article
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.
British journal of haematology - 1 Dec 1996
Harteveld C L, Heister J G, Giordano P C, Batelaan D, von Delft P, Haak H L, Wijermans P W, Losekoot M, Bernini L F
Abstract excerpt
We report the characterization of an alpha +(-)thalassaemia determinant due to a transition A-->G of the acceptor splice consensus site sequence (IVS1-116) of the first intron of the alpha 2-globin gene. The mutation, found in two apparently unrelated Dutch Caucasian families, was detected by DGG...
Topics
- Blotting, Southern
- DNA
- Globins
- Humans
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA
- RNA Splicing
- Sequence Analysis, DNA
- Sequence Analysis, RNA
- alpha-Thalassemia