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Location and PCR‐based detection of three polymorphisms of the human erythrocyte β‐spectrin gene (SPTB)
Author(s) -
Gallagher Patrick G.,
Lecomte MarieChristine,
Galand Colette,
Wang YongPing,
Tse William T.,
Forget Bernard G.
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb05043.x
Subject(s) - spectrin , hereditary spherocytosis , epb41 , red blood cell , gene , spherocytosis , biology , genetics , band 3 , microbiology and biotechnology , membrane protein , immunology , cell , cytoskeleton , membrane , splenectomy , spleen
Summary. 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.