Article
Correcting the PiZ defect in the alpha 1-antitrypsin gene of human cells by targeted homologous recombination.
Laboratory investigation; a journal of technical methods and pathology - 1 May 1994
Savransky E, Hytiroglou P, Harpaz N, Thung S N, Johnson E M
Abstract excerpt
BACKGROUND: Approximately 1% of people in North America carry the PiZ defect in the gene encoding the serum protein alpha 1-antitrypsin (AAT). Homozygotes are subject to early onset emphysema and liver disease. Here we demonstrate a means of correcting this gene defect, a point mutation in chromo...
Topics
- Animals
- Base Sequence
- Carcinoma, Hepatocellular
- Cell Line
- Chlorocebus aethiops
- DNA Primers
- Exons
- Fibroblasts
- Homozygote
- Humans
- Liver
- Liver Neoplasms
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Recombination, Genetic
- Transfection
- Tumor Cells, Cultured