title: Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization.
abstract: Oligonucleotide probes, specific for the two most common deficiency variants, Z and S, of alpha-1-antitrypsin have been successfully applied for the diagnosis at the DNA-level. The possible presence of silent alleles necessitates a careful study of the parents both at the protein- and DNA-level in prenatal diagnostic cases.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides / Q000032:analysis*; D011296:Prenatal Diagnosis / Q000379:methods; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D009841:Oligonucleotides; D000515:alpha 1-Antitrypsin; D004247:DNA