title: Molecular characterization of the P and I variants of alpha 1-antitrypsin.
abstract: Two rare alpha 1-antitrypsin variants, Pi I and Plowell, originally defined at the protein level through isoelectric focusing, were characterized at the DNA level by the polymerase chain reaction and direct sequencing. The I variant was confirmed in one individual and three independent families to result from a CGC(Arg) to TGC(Cys) transition at codon 39, within exon II. In our population, the Pi I variant might be more common than expected. The Plowell allele was shown in one M3P heterozygous individual to be due to a GAT(Asp) to GTT(Val) change at codon 256, in agreement with a previous study based on hybridization with allele-specific oligonucleotides.
authors.affiliation: Dipartimento di Biologia Molecolare, Università degli Studi di Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: B
authors.initials: B
authors.lastname: Magi
authors.forename: C
authors.initials: C
authors.lastname: Cellesi
authors.forename: P M
authors.initials: PM
authors.lastname: Olia
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: M
authors.initials: M
authors.lastname: De Marchi
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D003062:Codon; D000515:alpha 1-Antitrypsin