title: Alpha 1 antitrypsin deficiency in two population groups in north Italy.
abstract: We determined the PiM, PiS and PiZ gene frequencies by isoelectric focusing in 9128 newborns from two major ethnic groups, an Italian and a German one, in the Northern part of Italy. In the Italian group the PiS allele frequency is 0.032, the PiZ = 0.015, in the German one 0.015 and 0.019 respectively. Nine ZZ, 2 SS, 10 SZ, 314 MZ and 307 MS were detected. In our two population groups the PiS reflects better than other alleles a close genetic relationship between our German population and studied groups in Austria and Germany.
authors.affiliation: Pädiatrische Gastroenterologie, Regional-Krankenhaus, Bozen, Italy.
authors.forename: K
authors.initials: K
authors.lastname: Pittschieler
authors.forename: G
authors.initials: G
authors.lastname: Massi
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin