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1-antitrypsin genotype analysis
1 Laboratory of Proteins Biochemistry and 2 Respiratory Diseases Dept, University Hospital of Nancy-Brabois, Nancy, France
CORRESPONDENCE: I. Aimone-Gastin, Laboratory of Proteins Biochemistry, University Hospital of Nancy-Brabois, C.H.U. de Nancy-Brabois, Rue du Morvan, 54 511, Vandoeuvre Les Nancy, France. Fax: 33 183153591. E-mail: i.gastin@chu-nancy.fr
Keywords: 
1-antitrypsin, genomic deoxyribonucleic acid extraction, genotype, phenotype, polymerase chain reaction, serum
Received: May 23, 2002
Accepted August 26, 2002
If laboratory diagnosis of
Serum
Concerning phenotypic identification, 29 patients were MM homozygotes, 11 were heterozygotes for S (MS=7) or for Z (MZ=4) and three showed a ZZ phenotype. Genotyping analyses gave identical results with serum and whole blood extracted DNA and all the results were in agreement with the phenotyping results.
The authors found that the deoxyribonucleic acid-based test proved to be a reliable tool for
1-antitrypsin (1-AT) deficiency is usually based on its phenotype identification by isoelectric focusing, 1-antiprotease inhibitor (Pi)S and PiZ genotypes can also be determined by deoxyribonucleic acid (DNA)-based methods. Recently, several methods have been described for preparing genomic DNA from serum. The aim of the current study was to determine the Pi allele from serum extracted DNA by polymerase chain reaction (PCR) and to compare these results with those obtained with whole blood extracted DNA. 1-AT concentration and phenotypic identification were systematically performed in 43 hospitalised patients. Genomic DNA was simultaneously purified from whole blood and from serum. The mutation detection was found using a PCR-mediated site-directed mutagenesis method. 1-antitrypsin deficiency diagnosis and appears to be an alternative for the labour intensive 1-antitrypsin determination by isoelectric focusing. The authors also concluded that this method yields good quality deoxyribonucleic acid from serum, equal to that extracted from whole blood and is helpful in retrospective studies of multiple genetic markers.
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