Location and PCR-based detection of three polymorphisms of the human erythrocyte β-spectrin gene (SPTB)
- 1 October 1994
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 88 (2) , 413-414
- https://doi.org/10.1111/j.1365-2141.1994.tb05043.x
Abstract
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.Keywords
This publication has 7 references indexed in Scilit:
- The Exon-Intron Organization of the Human Erythroid β-Spectrin GeneGenomics, 1993
- Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.Journal of Clinical Investigation, 1993
- Mutations of the red blood cell membrane proteins: from clinical evaluation to detection of the underlying genetic defectBlood, 1992
- A Stul RFLP in the human β-spectrin gene (SPTB)Nucleic Acids Research, 1991
- Spectrin-based membrane skeleton: a multipotential adaptor between plasma membrane and cytoplasmPhysiological Reviews, 1990
- Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.Journal of Clinical Investigation, 1990
- Molecular cloning of the cDNA for human erythrocyte beta-spectrinBlood, 1988