Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis

Am J Hematol. 1999 Jan;60(1):72-4. doi: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8.

Abstract

Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping techniques, all three loci are excluded as disease gene candidates.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Anemia, Hemolytic, Congenital / genetics*
  • Blood Proteins / genetics*
  • Blood Proteins / physiology*
  • Calmodulin-Binding Proteins / genetics*
  • Calmodulin-Binding Proteins / physiology*
  • Erythrocytes, Abnormal / metabolism*
  • Genetic Diseases, Inborn / genetics*
  • Genotype
  • Humans
  • Membrane Proteins*
  • Pedigree

Substances

  • Blood Proteins
  • Calmodulin-Binding Proteins
  • Membrane Proteins
  • STOM protein, human
  • adducin