Polskie Towarzystwo
Hematologów i Transfuzjologów

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Acta Haematologica Polonica, 2010, 41, 4

PIOTR JAŹWIŃSKI · ELŻBIETA HEGER · BEATA MACHNICKA · JADWIGA HOŁOJDA · KAZIMIERZ KULICZKOWSKI · ALEKSANDER F. SIKORSKI · DŻAMILA M. BOGUSŁAWSKA

A novel missense polymorphism of the EPB41 gene

Nowy polimorfizm skutkujący zmianą sensu w genie EPB41

SłOWA KLUCZOWE:
Białko 4.1AnkirynaBłona erytrocytuInterakcje spektryna/aktynaDziedziczna sferocytoza
KEY WORDS:
Protein 4.1AnkyrinErythrocyte membraneSpectrin/actin interactionHereditary spherocytosis
pełna treść »
STRESZCZENIE: Defects in ankyrin-1 are implicated in approximately half of all cases with hereditary spherocytosis. Our studies aim to provide description of the molecular basis of this disease in some selected families in Poland. We report a case of a family with diagnosis of hereditary spherocytosis. The analysis of the erythrocyte membrane protein profile revealed a reduction of overall and 2.1 ankyrin in two HS patients father and one son. In the reported case, disease was manifested by symptoms typical of HS. The analysis of genes: ANK1, SLC4A1, SPTB and EPB41 coding regions of the genomic and mRNA sequences revealed presence of a new polymorphism in the exon 13 of the EPB41 gene (G358D). This heterozygous substitution was present in the father and both sons (HS and healthy), it was not detected in the mother and healthy control. We report here a novel polymorphism which occurs in HS patients EPB41 gene coding for protein 4.1. The pattern of inheritance however, suggests that this polymorphism is either not associated or only partly associated with HS phenotype. In any case this seems interesting as most mutations found in this gene have been so for assigned to hereditary elliptocytosis and is not typical of North European population.
SUMMARY: Defects in ankyrin-1 are implicated in approximately half of all cases with hereditary spherocytosis. Our studies aim to provide description of the molecular basis of this disease in some selected families in Poland. We report a case of a family with diagnosis of hereditary spherocytosis. The analysis of the erythrocyte membrane protein profile revealed a reduction of overall and 2.1 ankyrin in two HS patients father and one son. In the reported case, disease was manifested by symptoms typical of HS. The analysis of genes: ANK1, SLC4A1, SPTB and EPB41 coding regions of the genomic and mRNA sequences revealed presence of a new polymorphism in the exon 13 of the EPB41 gene (G358D). This heterozygous substitution was present in the father and both sons (HS and healthy), it was not detected in the mother and healthy control. We report here a novel polymorphism which occurs in HS patients EPB41 gene coding for protein 4.1. The pattern of inheritance however, suggests that this polymorphism is either not associated or only partly associated with HS phenotype. In any case this seems interesting as most mutations found in this gene have been so for assigned to hereditary elliptocytosis and is not typical of North European population.

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