title: Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.
abstract: 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 beta-spectrin (beta-W2061R mutation). We also identified the genetic basis of a previously identified protein polymorphism of the alpha III 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 alpha III domain polymorphism. These studies suggest that the HE mutations appear to have originated from separate genetic backgrounds in this population.
authors.affiliation: INSERM U409, Faculté X. Bichat, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Glele-Kakai
authors.forename: M
authors.initials: M
authors.lastname: Garbarz
authors.forename: M C
authors.initials: MC
authors.lastname: Lecomte
authors.forename: S
authors.initials: S
authors.lastname: Leborgne
authors.forename: C
authors.initials: C
authors.lastname: Galand
authors.forename: O
authors.initials: O
authors.lastname: Bournier
authors.forename: I
authors.initials: I
authors.lastname: Devaux
authors.forename: H
authors.initials: H
authors.lastname: Gautero
authors.forename: I
authors.initials: I
authors.lastname: Zohoun
authors.forename: P G
authors.initials: PG
authors.lastname: Gallagher
authors.forename: B G
authors.initials: BG
authors.lastname: Forget
authors.forename: D
authors.initials: D
authors.lastname: Dhermy
mesh_terms: D001541:Benin / Q000453:epidemiology; D004612:Elliptocytosis, Hereditary / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013049:Spectrin / Q000235:genetics*
chemical_list: D013049:Spectrin