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Genetic variants of transferrin in the diagnosis of protein hypoglycosylation
Author(s) -
Albahri Z.,
Marklová E.,
Vaníček H.,
Minxová L.,
Dédek P.,
Skálová S.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0113-y
Subject(s) - transferrin , isoelectric focusing , immunofixation , phenotype , genetics , genetic variants , human genetics , biology , allele , allele frequency , glycosylation , medicine , gene , endocrinology , genotype , biochemistry , antibody , monoclonal , monoclonal antibody , enzyme
Summary Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C 1 C 2 variant found in some groups of patients was not significant.