Genetic study of Tunisian Berbers. II. Alpha 1-antitrypsin (Pi) polymorphism: report of a new allele (Pi S Berber).
The alpha 1-antitrypsin (alpha 1-AT) (Pi) polymorphism has been studied in three Berber groups of Tunisia by high-resolution isoelectric focusing. The results showed that actual Tunisian Berbers are mainly Caucasoid. A new variant of alpha 1-AT, tentatively called Pi S Berber, was found in the three Berber groups. On isoelectric focusing this variant was slightly more cathodal than the product of the usual Pi S allele. Family studies showed that the Gm-Pi linkage is probably close when the Pi locus supports the Pi P allele which is responsible for moderate (30%) serum alpha 1-AT deficiency.
D000483:Alleles; D005006:Ethnicity; D006801:Humans; D007525:Isoelectric Focusing; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D014416:Tunisia; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin