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

P. G. Gallagher, M. C. Lecomte, C. Galand, Y. P. Wang, W. T. Tse, B. G. Forget*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)413-414
Number of pages2
JournalBritish Journal of Haematology
Volume88
Issue number2
DOIs
StatePublished - Jan 1 1994

Keywords

  • RBC membrane
  • elliptocytosis
  • linkage analysis
  • spherocytosis

ASJC Scopus subject areas

  • Hematology

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