SEQUENCE-ANALYSIS OF THE 3'-HYPOXIA-RESPONSIVE ELEMENT OF THE HUMAN ERYTHROPOIETIN GENE IN PATIENTS WITH ERYTHROCYTOSIS

Erythrocytosis arises from a variety of pathogenic mechanisms. We sequ enced a 256-bp region 3' to the erythropoietin (Epo) gene which includ ed a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- a nd HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the H IF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms c ause erythrocytosis. (C) 1997 Academic Press.