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Type: Artigo de periódico
Title: Low Frequency Of Ankyrin Mutations In Hereditary Spherocytosis: Identification Of Three Novel Mutations.
Author: Leite R.C.
Basseres D.S.
Ferreira J.S.
Alberto F.L.
Costa F.F.
Saad S.T.
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. Copyright 2000 Wiley-Liss, Inc.
Rights: fechado
Identifier DOI: 
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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