An ?-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the ?V/41 polymorphism
- 1 February 1993
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 90 (6) , 641-644
- https://doi.org/10.1007/bf00202482
Abstract
The α207 Leu→Pro mutation in spectrin has recently been identified as a cause of αI/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated α-spectrin allele carried, in cis, the αV/41 polymorphism, a common polymorphism altering the peptide maps and associated with a low-expression level. This is the first report of the cis combination of an HE mutation and the αV/41 polymorphism. Presumably, such a combination accounts for the very low expression of the abnormal allele in the heterozygous state.Keywords
This publication has 18 references indexed in Scilit:
- Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site.Journal of Biological Chemistry, 1992
- A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.Journal of Clinical Investigation, 1992
- Phasing the conformational unit of spectrin.Proceedings of the National Academy of Sciences, 1991
- A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis.1991
- Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton.1990
- From genes to structural morphogenesis: The genesis and epigenesis of a red blood cellCell, 1987
- Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.Journal of Clinical Investigation, 1987
- Erythrocyte spectrin is comprised of many homologous triple helical segmentsNature, 1984
- Common structural polymorphisms in human erythrocyte spectrin.Journal of Clinical Investigation, 1984
- Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis.Journal of Clinical Investigation, 1983