Review series
Genetics and pulmonary medicine
1
The genetics of cystic fibrosis lung disease
MRC
Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Correspondence to: Dr D Davidson.
| The first 150 words of the full text of this article appear below. |
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Introduction |
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Since the isolation of the gene responsible for cystic fibrosis in 1989 we have witnessed rapid progress in our understanding of this common genetic disorder. Progressively more detailed knowledge of the disease causing mutations, the gene expression patterns, the protein structure, and its function as an ion channel has allowed the development of reliable screening programmes, the creation of animal models, and the design of novel therapeutic approaches. The biological basis of many aspects of the disease phenotype are becoming clearer, including recent significant advances in understanding the pathogenesis of the characteristic and ultimately fatal lung disease. While this great expansion of knowledge has started to bridge the gap between our understanding of the genetic defect and the well documented clinical sequelae, it has also served to demonstrate the mechanistic complexity of this "simple" single gene defect.
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Cystic fibrosis and the cloning of the gene |
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Cystic fibrosis is the most common lethal autosomal recessive
genetic disorder in Caucasian populations
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