An Alpha-Spectrin Mutation Responsible for Hereditary Elliptocytosis Associated in Cis with the Alpha-V/41 Polymorphism
Human genetics(1993)
摘要
The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/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 alpha-spectrin allele carried, in cis, the alpha V/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 alpha V/41 polymorphism. Presumably, such a combination accounts for the very low expression of the abnormal allele in the heterozygous state.
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关键词
Peptide,Internal Medicine,Metabolic Disease,Black People,Heterozygous State
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