Two distinct variants of erythrocyte spectrin beta IV domain

Hum Genet. 1989 Nov;83(4):373-6. doi: 10.1007/BF00291384.

Abstract

We report two distinct variants affecting the beta IV domain of erythrocyte spectrin, designated spectrin Saint-Chamond and spectrin Tlemcen. They were discovered in a French family and an Algerian individual, respectively. They appeared clinically and morphologically asymptomatic in the heterozygous state. In two-dimensional maps of spectrin partial digests, both mutants were manifested by cathodic shifts (with no change of the molecular weights) of the peptides that cover the N-terminal region of spectrin beta IV domain. The relevance of the abnormal peptides to the beta IV domain was established by quantitative analysis and by Western blotting using anti-beta IV domain-specific antibodies. These two variants are thus far the most distal variants of spectrin to be defined on an unequivocal structural basis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Western
  • Erythrocytes / cytology
  • Genetic Variation*
  • Humans
  • Male
  • Mutation
  • Peptide Mapping
  • Spectrin / genetics*
  • Spectrin / immunology

Substances

  • Spectrin