CFTR gene

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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 [1][2]. The gene is found on the long 'q' arm of autosomal chromosome 7 in the human genome, in position 31.2[3]; 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[4].

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)[5]. Mutations in only one copy of the gene have been shown to give some protection against Typhoid fever[6], however Delta F508 mutation of both copies of the gene results in the CFTR protein failing to reach the plasma membrane of the cell .

References

  1. 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
  2. Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson
  3. Genetics Home Reference (2008) CFTR. Available at: http://ghr.nlm.nih.gov/gene/CFTR (Accessed November 13, 2014)
  4. Wikipedia (2014) Human Genome. Available at: http://en.wikipedia.org/wiki/Human_genome (Accessed November 15, 2014)
  5. Orenstein, D. (1997) Cystic Fibrosis: A Guide for Patient and Family. Second Edition. New York: Lippincott-Raven.
  6. Ridley, M. (1999) Genome: The Autobiography of a Species in 23 Chapters. HarperCollins
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