Location and PCR-based detection of three polymorphisms of the human erythrocyte beta-spectrin gene (SPTB).

Defects of beta spectrin, a structural protein of the erythrocyte membrane skeleton, have been identified in many cases of inherited disorders of red blood cell shape such as hereditary elliptocytosis and spherocytosis. To aid in genetic analyses of families with these disorders, the locations of three beta-spectrin gene (SPTB) polymorphisms were mapped and PCR-based assays designed for their identification. Using these PCR-based assays, the frequencies of these polymorphisms were determined in two populations.