Int J Clin Lab Res. 1992;22(2):119-21.

Molecular characterization of the P and I variants of alpha 1-antitrypsin.

Seri M, Magi B, Cellesi C, Olia PM, Renieri A, De Marchi M.

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Dipartimento di Biologia Molecolare, Università degli Studi di Siena, Italy.

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.

PMID:: 1504305; [PubMed - indexed for MEDLINE]

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