Document Detail

A novel method for rapid genotypic identification of alpha 1-antitrypsin variants.
MedLine Citation:
PMID:  15322427     Owner:  NLM     Status:  MEDLINE    
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.
Ilaria Ferrarotti; Michele Zorzetto; Roberta Scabini; Paola Mazzola; Ilaria Campo; Maurizio Luisetti
Related Documents :
16350807 - Thin layer chromatographic study of bauxite and quantitative estimation of co-existing ...
6531017 - Chemical characterization of psoralens used in the national toxicology program research...
1495677 - The stability of 99tcm directly labelled to an fab' antibody via stannous ion and merca...
2373957 - High-resolution proton nuclear magnetic resonance characterization of seminolipid from ...
14558627 - Separation of a complex mixture of heparin-derived oligosaccharides using reversed-phas...
12151067 - Simultaneous determination of binary mixtures of trimethoprim and sulfamethoxazole or s...
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    
Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, IRCCS Policlinico S. Matteo, Pavia, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
DNA Primers
DNA Restriction Enzymes*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length*
alpha 1-Antitrypsin / analysis*,  genetics*
Reg. No./Substance:
0/DNA Primers; 0/alpha 1-Antitrypsin; EC 3.1.21.-/DNA Restriction Enzymes
Erratum In:
Diagn Mol Pathol. 2005 Sep;14(3):191

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

Previous Document:  Nonuniform hybridization: a potential source of error in oligonucleotide-chip experiments with low a...
Next Document:  A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystr...