We studied an African population in Benin and discovered an unexpectedly high frequency (1.6%) of hereditary elliptocytosis (HE) among the 1447 subjects studied.
In approximately two-thirds of HE individuals we identified molecular defects, primarily those in erythrocyte alpha-spectrin (dupL154, L260P and L207P mutations), as well as a novel mutation of erythrocyte bêta-spectrin (bêta-W2061R mutation).
We also identified the genetic basis of a previously identified protein polymorphism of the alphaIII domain of spectrin (R1331I mutation).
The genetic background of HE in the African population was studied using a number of polymorphisms of the alpha-spectrin gene, including the alphaIII domain polymorphism.
These studies suggest that the HE mutations appear to have originated from separate genetic backgrounds in this population.
Mots-clés Pascal : Anémie elliptocytaire, Epidémiologie moléculaire, Spectrine, Mutation, Gène, Variabilité génétique, Bénin, Afrique, Homme, Hémopathie, Anémie hémolytique, Anomalie membrane hématie, Maladie héréditaire, Glycoprotéine
Mots-clés Pascal anglais : Hereditary elliptocytosis, Molecular epidemiology, Spectrin, Mutation, Gene, Genetic variability, Benin, Africa, Human, Hemopathy, Hemolytic anemia, Erythrocytic membrane disease, Genetic disease, Glycoproteins
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0465302
Code Inist : 002B19A01. Création : 10/04/1997.