Cystic fibrosis--a strategy for the future.
The identification of the cystic fibrosis locus must be regarded as a major triumph for human molecular genetics. In less than five years, it has been possible to move from the designation of the chromosomal location of CF to the identification of the previously unknown protein which is mutated. This work is a credit to all of the groups which participated in it, and particularly to the Toronto and Ann Arbor groups, which identified the sequence coding for the cystic fibrosis transmembrane regulator as the mutated gene. However, as powerful as molecular genetics is, it can only provide the first step towards understanding the correlation between structure and function for CFTR, analysing the clinical correlates between the gene and pathology, gaining knowledge of the population genetics of CF (including the numbers of mutations, as well as the question of whether or not there is a carrier advantage), and progressing to prevention through carrier testing in the community and to treatment through the development of pharmaceuticals and (ultimately) somatic gene therapy. The solutions to these problems will require the recruitment of new groups, with different techniques, to the CF research community.
Williamson
R
R
Department of Molecular Genetics, St. Mary's Hospital Medical School, Imperial College, London, England.
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008967:Molecular Biology
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator