An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism

Autor:	N, Dalla Venezia, R, Wilmotte, L, Morlé, A, Forissier, N, Parquet, M, Garbarz, T, Rousset, D, Dhermy, N, Alloisio, J, Delaunay
Rok vydání:	1993
Předmět:	Male Heterozygote Polymorphism Genetic Base Sequence Proline DNA Mutational Analysis Molecular Sequence Data Elliptocytosis Hereditary Gene Expression Infant Spectrin Polymerase Chain Reaction Pedigree Leucine Humans Point Mutation Female Alleles
Zdroj:	Human genetics. 90(6)
ISSN:	0340-6717
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::bd9d58d178b5e7f7db382d5fdd533308 https://pubmed.ncbi.nlm.nih.gov/8444470 Zobrazit plný text záznamu Full text from SpringerLink