Article
Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).
The Journal of clinical investigation - 1 Aug 1990
Morlé L, Roux A F, Alloisio N, Pothier B, Starck J, Denoroy L, Morlé F, Rudigoz R C, Forget B G, Delaunay J
Abstract excerpt
Spectrin alpha I/74 elliptocytosis results from abnormalities involving the "head" region of spectrin dimer. Increased susceptibility to trypsin enhances cleavage of the alpha spectrin chain, yielding an increased amount of the alpha I 74-kD fragment at the expense of the alpha I 80-kD parent fra...
Topics
- Amino Acid Sequence
- Base Sequence
- Elliptocytosis, Hereditary
- Genes
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Peptide Fragments
- Polymerase Chain Reaction
- RNA, Messenger
- Spectrin