title: Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.
abstract: Hereditary spherocytosis (HS) is a common hemolytic anemia caused by defects in the erythrocyte membrane proteins. The screening of mutations in the ankyrin-1 (ANK1) gene of 28 Brazilian HS patients showed two new missense mutations (His276Arg and Ile1054Thr) and one novel promoter mutation (-153 G-->A). The His276Arg mutation affected the invariable TPLH sequence on repeat 9. The -153 mutation was linked in cis to the known -108 T-->C mutation. In contrast to other populations, we were able to detect mutations in the ankyrin-1 gene in only 10% of our patients. It is also interesting to point out that, from 15 informative subjects for the 3' Acn repeats, only one presented a loss of heterozigosity at the cDNA level. Taken together, these results suggest that mutations in the ankyrin-1 gene might not be as common in Brazil as described for other populations.
authors: Departamento de Farmacologia, Universidade Estadual de Campinas, Departamento de Clinica Médica, Universidade Federal de Santa Catarina.
authors: R C
authors: RC
authors: Leite
authors: D S
authors: DS
authors: Basseres
authors: J S
authors: JS
authors: Ferreira
authors: F L
authors: FL
authors: Alberto
authors: F F
authors: FF
authors: Costa
authors: S T
authors: ST
authors: Saad
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D017487:Ankyrins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D013103:Spherocytosis, Hereditary / Q000235:genetics*
chemical_list: C110202:ANK1 protein, human; C491707:Ank1 protein, mouse; D017487:Ankyrins