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.

Seri, M., Magi, B., Cellesi, C., Olia, P.M., Renieri, A., & DE MARCHI, M. (1992). Molecular characterization of the P and I variants of alpha 1-antitrypsin. INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH, 22(2), 119-121.

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

RENIERI, ALESSANDRA;
1992

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.
Seri, M., Magi, B., Cellesi, C., Olia, P.M., Renieri, A., & DE MARCHI, M. (1992). Molecular characterization of the P and I variants of alpha 1-antitrypsin. INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH, 22(2), 119-121.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/17637
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