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Partial deficiency of protein 4.1 in hereditary elliptocytosis
Author(s) -
Lambert S.,
Zail S.
Publication year - 1987
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830260308
Subject(s) - polyacrylamide gel electrophoresis , membrane protein , gel electrophoresis , microbiology and biotechnology , biology , monoclonal antibody , white (mutation) , antibody , genetics , biochemistry , membrane , gene , enzyme
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.