Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin
| Autor: | Odile Bournier, Bernard G. Forget, Sylvie Leborgne, Colette Galand, H. Gautero, Clement Glele-Kakai, Isabelle Devaux, Didier Dhermy, Marie-Christine Lecomte, Patrick G. Gallagher, M. Garbarz, Isidore Zohoun |
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| Rok vydání: | 1996 |
| Předmět: |
Genetics
education.field_of_study Polymorphism Genetic medicine.diagnostic_test Hereditary elliptocytosis Point mutation Population Elliptocytosis Hereditary Spectrin Hematology Biology medicine.disease Polymerase Chain Reaction Elliptocytosis Mutation medicine Benin Humans Point Mutation Genetic Testing Genetic variability education Gene Genetic testing |
| Zdroj: | British Journal of Haematology. 95:57-66 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1046/j.1365-2141.1996.d01-1869.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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