Which ethnicities carry genetic mutations that can cause cystic fibrosis (CF)?

Updated: Oct 30, 2018
  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Kenan Haver, MD  more...
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Answer

Thus far, 1893 CFTR mutations have been identified. [12] Half of affected individuals of northern European descent are homozygous for the ΔF508 mutation, which is the deletion of a single phenylalanine residue at amino acid 508 of the CFTR gene (a class II defect). Another 25%-30% have one copy of ΔF508 plus another mutation. [13]

Certain alleles cluster with increased frequency in specific populations. For example, W1282X is common in Ashkenazi Jews, and A455E is common both in Dutch people and in individuals from northern Quebec. Δ1152H is the third most prevalent allele in Ashkenazi and other ethnic Jewish groups. The prevalence of Δ1152 mutation in Jewish populations comprises 5.2% of all CFTR mutations.


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