Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.
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.
Innes
D S
DS
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
Sinard
J H
JH
Gilligan
D M
DM
Snyder
L M
LM
Gallagher
P G
PG
Morrow
J S
JS
D000483:Alleles; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001798:Blood Proteins / Q000235:genetics* / Q000502:physiology*; D002148:Calmodulin-Binding Proteins / Q000235:genetics* / Q000502:physiology*; D004913:Erythrocytes, Abnormal / Q000378:metabolism*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins; D010375:Pedigree; D000099291:Adducins
D001798:Blood Proteins; D002148:Calmodulin-Binding Proteins; D008565:Membrane Proteins; D000099291:Adducins; C036860:STOM protein, human