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

D S Innes; J H Sinard; D M Gilligan; L M Snyder; P G Gallagher; J S Morrow

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

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.

Authors

D S Innes¹, J H Sinard, D M Gilligan, L M Snyder, P G Gallagher, J S Morrow

Affiliation

¹ Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.

PMID: 9883810
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