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α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

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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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Author notes

  1. R. Bruce Wallace and Keiichi Itakura: Division of Biology, Molecular Genetics Section, City of Hope Research Institute, Duarte, Califormia 91010, USA

Authors and Affiliations

  1. Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, Texas, 77030, USA

    Vincent J. Kidd, R. Bruce Wallace, Keiichi Itakura & Savio L. C. Woo

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  1. Vincent J. Kidd
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  2. R. Bruce Wallace
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  3. Keiichi Itakura
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  4. Savio L. C. Woo
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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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