alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene

Nature. 1983 Jul;304(5923):230-4. doi: 10.1038/304230a0.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA Restriction Enzymes
  • Genes*
  • Genotype
  • Humans
  • Liver / metabolism
  • Mutation*
  • Nucleic Acid Hybridization
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin Deficiency*


  • alpha 1-Antitrypsin
  • DNA Restriction Enzymes