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Self-Assessment Questions

Pulmonary Disease

Answer 1
  1. Although there are a few hundred mutations that exist for CF, the most prevalent mutation among northern Europeans is W1282X. CF is an autosomal recessive disorder of adults and children. More than 700 genetic mutations contribute to the development of CF. The most prevalent mutation of CFTR is deletion of a single phenylalanine residue at amino acid 508 (Delta F508). This mutation is responsible for the high incidence of CF in northern Europeans. The W1282X mutation is most common among the Ashkenazi Jewish population.

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