ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00202482
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