Partial deficiency of protein 4.1 in hereditary elliptocytosis.

Abstract

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.

• Authors: S Lambert, S Zail
• Journal: American journal of hematology (Am J Hematol) Vol. 26 Issue 3 Pg. 263-72 (Nov 1987) ISSN: 0361-8609 [Print] United States
• PMID: 3674005 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Blood Proteins
• Cytoskeletal Proteins
• Membrane Proteins
• Neuropeptides
• erythrocyte membrane band 4.1 protein
• erythrocyte membrane protein band 4.1-like 1

Topics

• Blood Proteins (deficiency, isolation & purification)
• Cytoskeletal Proteins
• Elliptocytosis, Hereditary (blood, genetics)
• Erythrocyte Membrane (analysis)
• Female
• Genetic Carrier Screening
• Humans
• Male
• Membrane Proteins (blood, isolation & purification)
• Neuropeptides
• Pedigree