Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay

A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M...

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Veröffentlicht in:	Molecular and cellular probes 1999-10, Vol.13 (5), p.389-391
Hauptverfasser:	Lucotte, G, Sesboüé, R
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - blood alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Base Sequence Genetic Testing Genetic Variation Genotype Humans Mutagenesis, Site-Directed Mutation Polymerase Chain Reaction - methods Serine Proteinase Inhibitors - genetics α1-antitrypsin (A1AT) deficiency, S and Z deficiency alleles, polymerase chain reaction (PCR), duplex reaction
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container_title	Molecular and cellular probes
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creator	Lucotte, G Sesboüé, R
description	A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard isoelectrofocusing technique.
doi_str_mv	10.1006/mcpr.1999.0264
format	Article
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subjects	Alleles alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - blood alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Base Sequence Genetic Testing Genetic Variation Genotype Humans Mutagenesis, Site-Directed Mutation Polymerase Chain Reaction - methods Serine Proteinase Inhibitors - genetics α1-antitrypsin (A1AT) deficiency, S and Z deficiency alleles, polymerase chain reaction (PCR), duplex reaction
title	Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay
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