Alpha-1-antitrypsin variation in Southern Africa.
Eleven Southern African populations were shown to be polymorphic at the alpha 1-antitrypsin locus. A 'new' electrophoretically detectable alpha 1-antitrypsin variant (PiWsan) which has a lower isoelectric point than does PiM, was found in the Bantu-speaking Negro and San populations. PiWsan appears to be functionally normal as judged by quantitative and qualitative studies.
D000353:Africa, Southern; D000483:Alleles; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000302:isolation & purification
D000515:alpha 1-Antitrypsin