Erythrocytosis due to a mutation in the erythropoietin receptor gene.
Br J Haematol
; 100(2): 407-10, 1998 Feb.
Article
em En
| MEDLINE
| ID: mdl-9488636
ABSTRACT
Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family. We have investigated the cause of erythrocytosis in an English boy. Sequencing of the cytoplasmic region of the EpoR detected a de novo transition mutation of G to A at nucleotide 6002. This mutation resulted in the formation of a stop codon at amino acid 439 with the loss of 70 amino acids from the carboxy terminus. The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Policitemia
/
Receptores da Eritropoetina
/
Mutação
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
1998
Tipo de documento:
Article