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Cystic Fibrosis

  • Jean A. Amos
Chapter
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Abstract

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in whites, with an estimated incidence of 1 in 2500 to 3300 live births. Approximately 30,000 children and adults in the United States are affected and approximately 850 individuals are newly diagnosed annually, the majority less than 1 year old. For a current, comprehensive review of clinical CF and molecular diagnostics for this disorder, see http://www.genetests.org/.

Keywords

Genetic Counseling Cystic Fibrosis Patient Carrier Screening Cystic Fibrosis Mutation Familial Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for populationbased cystic fibrosis carrier screening. Genet Med. 2001;3:149–154.PubMedGoogle Scholar
  2. 2.
    Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U. SA. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001;3:168–176.PubMedGoogle Scholar
  3. 3.
    Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Cystic fibrosis carrier screening: Issues in implementation. Genet Med. 2002;4:407–409.PubMedGoogle Scholar
  4. 4.
    Rohlfs EM, Zhou Z, Sugarman EA. The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med. 2002;4:319–323.PubMedGoogle Scholar
  5. 5.
    Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing [erratum in: Genet Med. 2002;4:471]. Genet Med. 2002;4:379–391.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Jean A. Amos
    • 1
  1. 1.Department of Human GeneticsFocus DiagnosticsCypressUSA

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