Erythrocytosis arises from a variety of pathogenic mechanisms. We sequenced a 256-bp region 3' to the erythropoietin (Epo) gene which included a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- and HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the HIF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms cause erythrocytosis.
|Number of pages||3|
|Journal||Biochemical and Molecular Medicine|
|Publication status||Published - Oct 1997|
Bibliographical noteCopyright 1997 Academic Press.
- Binding Sites
- DNA-Binding Proteins
- Hypoxia-Inducible Factor 1
- Hypoxia-Inducible Factor 1, alpha Subunit
- Nuclear Proteins
- Transcription Factors