title: alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.
abstract: A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.
mesh_terms: D001483:Base Sequence; D004262:DNA Restriction Enzymes; D005796:Genes; D005838:Genotype; D006801:Humans; D008099:Liver / Q000378:metabolism; D009154:Mutation; D009693:Nucleic Acid Hybridization; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin; D004262:DNA Restriction Enzymes