Article
Regulation of the alpha 1-antitrypsin gene and a disease-associated mutation in a related enhancer sequence.
American journal of respiratory and critical care medicine - 1 Dec 1994
Kalsheker N A, Morgan K
Abstract excerpt
Ten years ago a search was initiated for DNA variation in the alpha-1-antitrypsin gene (alpha 1-AT) to determine whether there were mutations more commonly associated with patients who had chronic obstructive airways disease (COAD) than with healthy individuals. Using the conventional approach of Southern blotting and searching for restriction fragment length polymorphisms, we identified a potentially useful...
Topics
- Base Sequence
- DNA Restriction Enzymes
- DNA-Directed DNA Polymerase
- Gene Expression Regulation
- Humans
- Lung Diseases, Obstructive
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length