Clinical Chemistry Link to Randox Laboratories Web Site
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 48: 844-849, 2002;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (11)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Galliano, M.
Right arrow Articles by Minchiotti, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Galliano, M.
Right arrow Articles by Minchiotti, L.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Proteomics and Protein Markers
(Clinical Chemistry. 2002;48:844-849.)
© 2002 American Association for Clinical Chemistry, Inc.

Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

Monica Galliano1, Monica Campagnoli1, Antonio Rossi1, Carl Heinz Wirsing von König2, Andrew W. Lyon3, Kivanc Cefle4, Alaattin Yildiz5, Sukru Palanduz4, Sukru Ozturk4 and Lorenzo Minchiotti1a

1 Department of Biochemistry "A. Castellani", Università di Pavia, 27100 Pavia, Italy.

2 Institut fur Hygiene and Laboratoriumsmedizin, Klinikum Krefeld, 47085 Krefeld, Germany.

3 Department of Pathology and Laboratory Medicine, University of Calgary, Foothills Medical Centre & Calgary Laboratory Services, Calgary, AB, T3C 0J5 Canada.
Department of Internal Medicine,
4 Division of Medical Genetics and
5 Division of Nephrology, Istanbul University, Istanbul Medical Faculty, 34390 Capa Istanbul, Turkey.

aAddress correspondence to this author at: Department of Biochemistry "A. Castellani", via Taramelli 3b, Università di Pavia, 27100 Pavia, Italy. Fax 39-382-423108; e-mail loremin{at}unipv.it.

Background: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia.

Methods: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly.

Results: In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430–2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues.

Conclusions: The AT deletion at nucleotides 2430–2431 is a novel mutation associated with analbuminemia.




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
L. Dolcini, G. Caridi, M. Dagnino, A. Sala, S. Gokce, S. Sokucu, M. Campagnoli, M. Galliano, and L. Minchiotti
Analbuminemia Produced by a Novel Splicing Mutation
Clin. Chem., August 1, 2007; 53(8): 1549 - 1552.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
F. Campagna, F. Fioretti, M. Burattin, S. Romeo, F. Sentinelli, M. Bifolco, M. I. Sirinian, M. Del Ben, F. Angelico, and M. Arca
Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene
Clin. Chem., July 1, 2005; 51(7): 1256 - 1258.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. Campagnoli, A. Sala, A. Romano, A. Rossi, J. Nauta, B. G.P. Koot, L. Minchiotti, and M. Galliano
Novel Nonsense Mutation Causes Analbuminemia in a Moroccan Family
Clin. Chem., January 1, 2005; 51(1): 227 - 229.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by the American Association for Clinical Chemistry.