Bisalbuminemia in two Croatian families (CROSBI ID 95034)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Dodig, Slavica ; Čepelak, Ivana ; Raos, Miljenko ; Benko, Bojan ; Branović, Karmen
engleski
Bisalbuminemia in two Croatian families
Bisalbuminemia is a dysproteinemia characterized by the occurrence of two albumin fractions on serum protein separation by electrophoresis on cellulose acetate sheets. Bisalbuminemia mag, occur as a hereditary trait or as analytical interference with some drugs, especially penicillin. Two patients with the finding of bisalbuminemia are presented. Both patients (patient 1 was a 4-1/2-month-old male infant, and patient 2 was a 15-year-old boy) were admitted for respiratory infection. Bisalbuminemia was detected by serum protein electrophoresis and confirmed by isoelectric focusing in pH gradient gel (pH range 4.0-6.5). This finding was supported by simultaneous detection of abnormal albumin in the mother of patient 1, while the father had normal albumin. The abnormal fast albumin in both patients had an increased relative mobility of 1.08 when measured from the sample application position. The results presented rue the first description of albumin mutations in Croatia (that according to the CISMEL group could be classified as ZC/HZ), and present the first step in identification prior to determination of structural change and amino acid sequence in the albumin molecule.
Albumin ; Albumin variant ; Bisalbuminemia.
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Podaci o izdanju
31 (6)
2000.
608-612
objavljeno
0188-4409
10.1016/S0188-4409(00)00251-4