Cystic Fibrosis Gene: Identification


Genetic and physical mapping studies of chromosome 7 led to the identification of the CF gene before the Human Genome Project.

Keywords: cystic fibrosis; linkage; somatic cell hybrids; physical mapping; conserved sequences

Figure 1.

The cystic fibrosis (CF) gene (CFTR) maps to the long arm of chromosome 7. An ideogram of chromosome 7 (redrawn from Mitelman, ) is shown aligned with the interval exhibiting significant linkage to CFTR. The relative location of several genetic landmarks is indicated, including PON1 and D7S15, which led to the recognition that the CF gene resided on chromosome 7. The refined interval flanked by MET and D7S8 has been subjected to detailed, long‐range physical mapping with the help of landmarks derived from within the interval (not all derived landmarks are shown) in order to identify the CF transmembrane conductance regulator (CFTR). The interval spans 1600 kb of DNA. Data have been incorporated from several sources.



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Further Reading

Poustka A and Lehrach H (1986) Jumping libraries and linking libraries: the next generation of molecular tools in mammalian genetics. Trends in Genetics: TIG 2: 174–179.

Zielenski J (2000) Genotype and phenotype in cystic fibrosis. Respiration 67: 117–133.

Web Links

Cystic Fibrosis Mutation Database. A list of mutations and population variants in CFTR

OMIM morbid map. A list of chromosome map locations of disease genes; many of these genes were isolated by positional cloning.‐post/Omin/getmorbid

OMIM entry 219700 (Cystic fibrosis). An up to date summary of molecular genetics of cystic fibrosis‐post/Omim/dispmin?219700

CFTR (cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7)); LocusID: 1080. LocusLink:

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

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How to Cite close
Rommens, Johanna M(Sep 2005) Cystic Fibrosis Gene: Identification. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005376]