A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

Summary, in English

In the process of obtaining a driver's license, a healthy 28year old man presented increased levels of disialo-transferrin (TF) (approx. 20%, ref. value<2) by HPLC analysis of TF isoforms (%CDT), while other markers of excessive alcohol consumption (PEth, MCV and γ-GT) were in the normal range. The objective of this study was to determine the cause of the increased %CDT levels.

• Author: Ammi Grahn; Per Bengtson; Erik Eklund; Jorge Asin-Cayuela
• Department/s: Division of Clinical Chemistry and Pharmacology; Breastcancer-genetics
• Publishing year: 2016
• Language: English
• Pages: 511-513
• Publication/Series: Clinical Biochemistry
• Volume: 49
• Issue: 6
• Links: http://www.ncbi.nlm.nih.gov/pubmed/26656560?dopt=Abstract; http://dx.doi.org/10.1016/j.clinbiochem.2015.12.001
• Document type: Journal article
• Publisher: Elsevier
• Topic: Cell and Molecular Biology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1873-2933