Document Detail


A novel method for rapid genotypic identification of alpha 1-antitrypsin variants.
MedLine Citation:
PMID:  15322427     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
There is worldwide growing awareness of alpha 1-antitrypsin deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard for laboratory diagnosis of AATD is thin-layer isoelectrofocusing (IEF), which is labor intensive and should be performed in reference laboratories. The aim of this study was to find an easy, fast, and cheap method for detecting alpha1-antitrypsin S and Z variants, the most frequent variants associated with AATD. The novel method herein described is based on SexAI/Hpy99I RFLP. We studied samples from 90 subjects enrolled in the Italian National Registry for AATD, previously typed by isoelectrofocusing. We found a complete agreement among our results, IEF, and genotypes obtained by standard methods. We concluded that this novel method combines efficiency, ease, swiftness, and low cost.
Authors:
Ilaria Ferrarotti; Michele Zorzetto; Roberta Scabini; Paola Mazzola; Ilaria Campo; Maurizio Luisetti
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Diagnostic molecular pathology : the American journal of surgical pathology, part B     Volume:  13     ISSN:  1052-9551     ISO Abbreviation:  Diagn. Mol. Pathol.     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-08-23     Completed Date:  2005-02-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9204924     Medline TA:  Diagn Mol Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  160-3     Citation Subset:  IM    
Affiliation:
Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, IRCCS Policlinico S. Matteo, Pavia, Italy.
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MeSH Terms
Descriptor/Qualifier:
DNA Primers
DNA Restriction Enzymes*
Genotype
Humans
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length*
alpha 1-Antitrypsin / analysis*,  genetics*
Chemical
Reg. No./Substance:
0/DNA Primers; 0/alpha 1-Antitrypsin; EC 3.1.21.-/DNA Restriction Enzymes
Comments/Corrections
Erratum In:
Diagn Mol Pathol. 2005 Sep;14(3):191

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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