Defects of β 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 β-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.
|Original language||English (US)|
|Number of pages||2|
|Journal||British Journal of Haematology|
|State||Published - Jan 1 1994|
- RBC membrane
- linkage analysis
ASJC Scopus subject areas