Familial erythrocytosis genetically linked to erythropoietin receptor gene

Familial erythrocytosis is heterogeneous with diverse causes. Using a highly informative, simple sequence repeat polymorphism in the 5' region of the erythropoietin receptor gene (EPOR), we did linkage analysis in a large family whose clinical and genealogical features were known. There were no recombinations between the disease phenotype and the polymorphism, the logarithm of odds score for linkage at zero recombination being 6.37. This highly significant linkage indicates that a mutation in EPOR is most probably responsible for the disease phenotype in this family.