Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.
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.
Leite
R C
RC
Departamento de Farmacologia, Universidade Estadual de Campinas, Departamento de Clinica Médica, Universidade Federal de Santa Catarina.
Basseres
D S
DS
Ferreira
J S
JS
Alberto
F L
FL
Costa
F F
FF
Saad
S T
ST
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*
C110202:ANK1 protein, human; C491707:Ank1 protein, mouse; D017487:Ankyrins