title: Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.
abstract: 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.
authors.affiliation: Regional Center of Neurogenetics, Maison Blanche Hospital, 45, rue Cognacq-Jay, Reims, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: R
authors.initials: R
authors.lastname: Sesboüé
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015842:Serine Proteinase Inhibitors / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin