title: Three new rare variants of alpha 1-antitrypsin.
abstract: Three new rare genetic variants of the serum protein alpha 1-antitrypsin (alpha 1-protease inhibitor) have been identified in a Caucasian population. The new alleles in the PI system are PI*EFRA, PT*PCAS, and PI*XALB. When compared with the normal type M by isolectric focusing in polyacrylamide, Efranklin (EFRA) is anodal, and Pcastoria (PCAS) and Xalban (XALB) are cathodal. These variants have been compared with previously described variants by isoelectric focusing and by electrophoresis in agarose and acid starch gels. All three variant alleles appear to be associated with normal amounts of alpha 1-antitrypsin, assayed both by functional and immunological methods.
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D004587:Electrophoresis, Agar Gel; D004592:Electrophoresis, Starch Gel; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin