PiT: a new allele in the alpha 1-antitrypsin system.
In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.
D000328:Adult; D000483:Alleles; D004591:Electrophoresis, Polyacrylamide Gel; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005860:Germany, West; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin