Biopolym. Cell. 1990; 6(1):51-56.
DNA diagnostics and approaches to gene therapy of hereditary α1-antitrypsin deficiency
1Schwartzman A. L., 1Strakhova M. P., 1Gaitskhoki V. S., 2Berger W., 2Coutelle Ch.
  1. Institute of Experimental Medicine, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  2. Central Institute for Molecular Biology, Academy of Sciences of DDR
    Berlin-Buch, DDR

Abstract

The recombinant clones synthesizing immunoreactive α1-antitrypsin were isolated from expression library of human liver cDNA. Their sequencing has shown that they contain AT cDNAs lacking 20–100 codons from 5'terminal region of AT cRNA. These clones were used as probes for the diagnosis of inherited AT deficiency based on linked Maelll polymorphism. cDNA clones including all the codons for mature AT starting from +2 codon are obtained to construct bacterial strains-producents of AT as well as of recombinant DNAs necessary for gene therapy of AT deficiency.

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