Partial deficiency of protein 4.1 in hereditary elliptocytosis.
Protein 4.1, an important component of the red cell membrane skeleton, was quantitated relative to protein 3 after sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) of membranes isolated from red cells of members of 14 kindreds with hereditary elliptocytosis (HE) who reside in South Africa. A partial deficiency of protein 4.1 (mean 30% reduction) was inherited in autosomal dominant fashion in five white kindreds giving a frequency of 0.36 of HE families studied. Immunoblots of membrane proteins separated by SDS-PAGE and probed with a monoclonal antibody to protein 4.1 did not reveal any proteolytic fragments in the 4.1-deficient subjects that could account for the reduction of this protein. These studies draw attention to the relatively high frequency of this condition as a cause of HE in white subjects in this country.
Lambert
S
S
Department of Hematology, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa.
Zail
S
S
D001798:Blood Proteins / Q000172:deficiency* / Q000302:isolation & purification; D003598:Cytoskeletal Proteins; D004612:Elliptocytosis, Hereditary / Q000097:blood* / Q000235:genetics; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood* / Q000302:isolation & purification; D009479:Neuropeptides; D010375:Pedigree
D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D009479:Neuropeptides; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1