OBJECTIVE: To find the mutation causing the first two reported cases of analbuminemia. DESIGN AND METHODS: DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced. RESULTS: A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon. CONCLUSIONS: The data suggest that analbuminemia is the result of widely scattered random mutations. Copyright 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
OBJECTIVE: To find the mutation causing the first two reported cases of analbuminemia. DESIGN AND METHODS: DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced. RESULTS: A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon. CONCLUSIONS: The data suggest that analbuminemia is the result of widely scattered random mutations. Copyright 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.