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Molecular basis of α 1 ‐antitrypsin deficiency and its potential therapy by gene transfer
Author(s) -
Ledley F. D.,
Woo S. L. C.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800861
Subject(s) - human genetics , genetic enhancement , gene transfer , genetics , gene , medicine , biology
The gene for α 1 ‐antitrypsin, a serum anti‐protease, has been cloned and sequenced. The underlying mutation in the PiZ allele has been identified as a G to A conversion giving rise to the substitution of glu by lys at position 342. Preparation of specific probes has allowed prenatal diagnosis. Recombinant retroviruses containing the normal human α 1 ‐antitrypsin gene have been constructed and used to infect NIH3T3 cells. Analysis of DNA, RNA and protein indicate that successful incorporation of the α 1 ‐antitrypsin was achieved and that the gene was capable of being expressed. The feasibility of genetic replacement therapy has been demonstrated and further experiments justified.

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