engleski

Albumin Benkovac (c.1175 A > G ; p.Glu392Gly): a novel genetic variant of human serum albumin

In our continuing study of mutations within the albumin gene, here we report the identification of the base change that causes bisalbuminemia in a Croatian family. A slow variant, accounting for approximately 50% of the total albumin, was previously identified bycapillary electrophoresis of serum proteins in a Croatian male patient with sarcoidosis and in his sister. For the identification of the causative mutation, we used the procedure that has been successfully applied to the analysis of the analbuminemia causing defects. Our strategy is based on single-strand conformation polymorphism and heteroduplex analysis of the polymerase chain reaction (PCR) products to localize the site of the mutation, followed by automated direct sequencing of the abnormal amplicons.

bisalbuminemia ; albumin

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