Cystic Fibrosis (CF)

Abstract

Cystic fibrosis is an inherited disorder of serious medical consequence and is the most common such disorder among Caucasians.

Keywords: cystic fibrosis; mucoviscidosis; genetic disease; genetics; chromosome 7; mutation; ATP‐binding cassette; chloride channel; carrier; pancreas; lung; Pseudomonas; Berkholderia; sweat; azoospermia; pancreatitis; meconium ileus

Further Reading

European Working Group on CF Genetics (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Human Genetics 85: 436–445.

Kerem B, Rommens JM, Buchanan JA, et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080.

Riordan JR, Rommens JM, Kerem B, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066–1073.

Rommens JM, Iannuzzi MC, Kerem B, et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065.

The cystic fibrosis Genotype–Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. New England Journal of Medicine 329: 1308–1313.

Tsui L‐C and Buchwald M (1991) Biochemical and molecular genetics of cystic fibrosis. In: Harris H and Hirschhorn K (eds.) Advances in Human Genetics, vol. 20, pp. 153–267. New York, NY: Plenum Press

Welsh MJ, Ramsey BW, Accurso F and Cutting GR (2001) Cystic fibrosis. In: Scriver C, Vogelstein B and Beaudet AL (eds.) The Metabolic and Molecular Bases of Inherited Disease, pp. 5121–5188. New York, NY: McGraw‐Hill Professional

Zielenski J, Corey M, Rozmahel R, et al. (1999) Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nature Genetics 22: 128–129.

Web Links

CF Mutation Database http://www.genet.sickkids.on.ca/cftr/

Online Mendelian Inheritance in Man (OMIM) Johns Hopkins University, Baltimore, Md. MIM numbers: 219700 (cystic fibrosis, CF), 602421 (cystic fibrosis transmembrane conductance regulator, CFTR), 603855 (cystic fibrosis modifier 1, CFM1) http://www.ncbi.nlm.nih.gov/omim/

CFTR(cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7)); Locus ID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080

CFTR(cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7)); MIM number: 602421. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602421

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How to Cite close
Tsui, Lap‐Chee(Jan 2006) Cystic Fibrosis (CF). In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005531]