title: Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.
abstract: 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 C1C2 variant found in some groups of patients was not significant.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Charles University, Hradec Králové, Czech Republic. albahriz@lfhk.cuni.cz
authors.forename: Z
authors.initials: Z
authors.lastname: Albahri
authors.forename: E
authors.initials: E
authors.lastname: Marklová
authors.forename: H
authors.initials: H
authors.lastname: Vanícek
authors.forename: L
authors.initials: L
authors.lastname: Minxová
authors.forename: P
authors.initials: P
authors.lastname: Dédek
authors.forename: S
authors.initials: S
authors.lastname: Skálová
mesh_terms: D000293:Adolescent; D000483:Alleles; D014644:Genetic Variation; D006031:Glycosylation; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D020033:Protein Isoforms; D014168:Transferrin / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D014168:Transferrin