Genetic Variants of Serum Alpha-1-Antitrypsin (Pi Types) in Normans

The results of Pi typing by high resolution isoelectric focusing on 1,030 Normans from the area of Rouen (France) is reported. The frequency of the three common subtypes of Pi M is given and new variants partly described. Pi gene frequencies are compared to previously obtained data and results from...

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Bibliographic Details
Published inHuman heredity Vol. 31; no. 2; pp. 104 - 109
Main Authors Charlionet, R., Sesboüé, R., Morcamp, C., Lefebvre, F., Martin, J.P.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland 29.08.2008
Subjects
Original Paper
Alpha-1-antitrypsin
Pi M subtypes
Isoelectric focusing
Population study in Normandy
Pi phenotypes
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Summary:The results of Pi typing by high resolution isoelectric focusing on 1,030 Normans from the area of Rouen (France) is reported. The frequency of the three common subtypes of Pi M is given and new variants partly described. Pi gene frequencies are compared to previously obtained data and results from other countries. The application of high resolution isoelectric focusing to the Pi system is discussed together with the advantages it provides in the knowledge of alpha-1-antitryρsin genetic polymorphism.
ISSN:0001-5652
1423-0062
DOI:10.1159/000153187