α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene
- 1 July 1983
- journal article
- research article
- Published by Springer Nature in Nature
- Vol. 304 (5923) , 230-234
- https://doi.org/10.1038/304230a0
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 (190-mer) were used to develop a sensitive and direct test for the presence or the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.Keywords
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