The Cystic Fibrosis Gene
Introduction:
Cystic fibrosis is an inherited autosomal recessive disease
that exerts its main effects on the digestive system and the
lungs. This disease is the most common genetic disorder
amongst Caucasians. Cystic fibrosis affects about one in
2,500 people, with one in twenty five being a heterozygote.
With the use of antibiotics, the life span of a person
afflicted with CF can be extended up to thirty years
however, most die before the age of thirteen.1 Since so
many people are affected by this disease, its no wonder
that CF was the first human genetic disease to be cloned by
geneticists. In this paper, I will be focusing on how the
cystic fibrosis gene was discovered while at the same time,
discussing the protein defect in the CF gene, the
bio-chemical defect associated with CF, and possible
treatments of the disease.
Finding the Cystic Fibrosis Gene:
The classical genetic approach to finding the gene that is
responsible for causing a genetic disease has been to first
characterize the bio-chemical defect within the gene, then
to identify the mutated protein in
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