Location of the mutation site in the first two reported cases of analbuminemia

Clin Biochem. 2010 Mar;43(4-5):525-7. doi: 10.1016/j.clinbiochem.2009.12.002. Epub 2009 Dec 16.

Authors

Mary S Ruhoff¹, Michael W Greene, Theodore Peters

Affiliation

¹ Research Institute, The Mary Imogene Bassett Hospital (affiliated with Columbia University), Cooperstown, NY 13326, USA.

PMID: 20025859
DOI: 10.1016/j.clinbiochem.2009.12.002

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Sequence
Base Sequence
Blood Protein Disorders / genetics*
DNA Mutational Analysis
Female
Humans
Male
Molecular Sequence Data
Mutation / genetics*
Serum Albumin / chemistry
Serum Albumin / deficiency*
Serum Albumin / genetics*
Young Adult

Substances

Serum Albumin