Cystic Fibrosis Gene: Identification


With the realisation that some diseases exhibit defined patterns of inheritance in families, it was apparent that careful investigation of the genetic material of these family members should reveal clues to underlying disease cause. For cystic fibrosis (CF), a debilitating disease that affects many organs with progressive lung morbidity, deficiencies in the gene known as CFTR lead to impaired anion channel function in epithelial tissues. Early genetic and physical mapping studies of chromosome 7 led to the identification of this CF causal gene, providing impetus for the Human Genome Project and the refined chromosome maps that are now available at chromosome function and deoxyribonucleic acid (DNA) sequence levels.

Key Concepts

  • Cystic fibrosis displays autosomal recessive inheritance.
  • Genetic and physical marker maps converge to yield a scaffold of chromosome 7.
  • Only small segments of human chromosomes correspond to genes that encode proteins.
  • Refined chromosome and genome DNA sequence maps provide resources for disease gene discovery.
  • Causal gene discovery enables molecular diagnostics.

Keywords: cystic fibrosis; genetic linkage; somatic cell hybrids; physical mapping; conserved sequences; genome DNA sequence

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 was 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

Boycott KM, Vanstone MR, Bulman DE, et al. (2013) Rare‐disease genetics in the era of next‐generation sequencing: discovery to translation. Nature Reviews. Genetics 14: 681–691.

Riordan JR, Boucher RC and Quinton PM (eds) (2013) Cystic Fibrosis: A Trilogy of Biochemistry, Physiology and Therapy. Cold Spring Harbor Perspectives in Medicine Series. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.

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How to Cite close
Rommens, Johanna M(Aug 2018) Cystic Fibrosis Gene: Identification. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005376.pub2]