Dictionary of Human Evolution and Biology

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Cystic Fibrosis

Heritable ion channel disease characterized by a chronic increase of mucus in many tissues, malfunction of the pancreas and other glands, lung infections, very salty sweat, slow overall growth, and failure to thrive; the ultimate effect is a decreased life expectancy. The respiratory tract is especially affected, owing to an abnormal protein called the cystic fibrosis transmembrane-conductance regulator that causes misshapen secretory channels in selected alveolar cells; these trap chloride salts inside cells and thicken exterior secretions. The accumulated mucus provides a medium in which agents of infection thrive. Heterozygote advantage in the presence of past episodes of cholera, typhoid fever, and/or infant diarrhea has been proposed as an explanation for the high frequency of the cystic fibrosis f allele in Europe; as many as 1: 25 may be carriers. Affected individuals are homozygous (ff); males are sterile. CF affects between 1: 500 to 1: 3 500 live births to American parents of European ancestry. Aka mucovicidosis.

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