Abstract
A deficiency in the plasma protease inhibitor α1-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 α1-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.
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Kidd, V., Wallace, R., Itakura, K. et al. α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature 304, 230–234 (1983). https://doi.org/10.1038/304230a0
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DOI: https://doi.org/10.1038/304230a0
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