The Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR gene) codes for the CFTR protein which is heavily involved in the transport of chloride ions across the plasma membrane . The gene is found on the long 'q' arm of autosomal chromosome 7 in the human genome, in position 31.2; it is a large gene with approximately 200,000 bases, however has a large number of introns and only 37 exons, so only codes for 1480 amino acids.
Mutations in both copies of the CFTR gene lead to Cystic Fibrosis. The most common mutation is the ∆F508 mutation (deletion of three nucleotides coding for Phenylalanine (F) in position 508 of this gene). Mutations in only one copy of the gene have been shown to give some protection against Typhoid fever, however Delta F508 mutation of both copies of the gene results in the CFTR protein failing to reach the plasma membrane of the cell .
- ↑ Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L-C (1989)"Identification of the cystic fibrosis gene: genetic analysis." Science 245:1073-1080
- ↑ Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson
- ↑ Genetics Home Reference (2008) CFTR. Available at: http://ghr.nlm.nih.gov/gene/CFTR (Accessed November 13, 2014)
- ↑ Wikipedia (2014) Human Genome. Available at: http://en.wikipedia.org/wiki/Human_genome (Accessed November 15, 2014)
- ↑ Orenstein, D. (1997) Cystic Fibrosis: A Guide for Patient and Family. Second Edition. New York: Lippincott-Raven.
- ↑ Ridley, M. (1999) Genome: The Autobiography of a Species in 23 Chapters. HarperCollins