title: Alpha-1-antitrypsin (PI) polymorphism in France, with special regard to the PI*Z allele.
abstract: Alpha-1-antitrypsin (PI) phenotypes were studied in a sample of more than 5,000 individuals from cities throughout France. Special interest was paid to the PI*Z allele whose average frequency, based on the present work plus results from the literature, was 0.0130. This figure was used to estimate the number of PI Z homozygotes in France. In accordance with previous studies, the frequency of the PI*S allele was found to increase towards the southern parts of France.
authors.affiliation: INSERM Unité 295, Faculté de Médecine-Pharmacie, Saint-Etienne du Rouvray, France.
authors.forename: R
authors.initials: R
authors.lastname: Sesboüé
authors.forename: J P
authors.initials: JP
authors.lastname: Martin
mesh_terms: D000328:Adult; D000395:Air Pollutants, Occupational / Q000009:adverse effects*; D000483:Alleles; D005260:Female; D005602:France; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012140:Respiratory Tract Diseases / Q000235:genetics*; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000395:Air Pollutants, Occupational; D000515:alpha 1-Antitrypsin