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In its most common form, a single amino acid mutation leads to the production of an abnormal protein (CFTR = cystic fibrosis transmembrane receptor) important in transporting chloride ions across epithelial cells found in the lung and intestinal tract. |
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In its most common form, a single amino acid mutation leads to the production of an abnormal protein (CFTR = cystic fibrosis transmembrane receptor) important in transporting chloride ions across epithelial cells found in the lung and intestinal tract. Since water follows ions by osmosis, this results in water depleted and viscous mucus. |
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Cystic fibrosis was first described as a disease in the late 1930s. It is the most common genetic disease among people with European ancestry. Approximately one in every 25 people carries one normal and one CF gene. Since cystic fibrosis is recessive, both copies of the gene have to be CF genes to cause the symptoms that occur in about 1 in every 2500 children. The disease can be diagnosed by a high salt concentration in a baby's sweat. The high incidence of this lethal gene can be explained by the fact that CF carriers, who don't show any symptoms, enjoy some protection against cholera?. People from areas where cholera is not a problem show a much lower incidence of CF. |
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Cystic fibrosis was first described as a disease in the late 1930s. It is the most common genetic disease among people with European ancestry. Approximately one in every 25 people carries one normal and one CF gene. Since cystic fibrosis is recessive, both copies of the gene have to be CF genes to cause the symptoms that occur in about 1 in every 2500 children. The disease can be diagnosed by a high salt concentration in a baby's sweat. The high incidence of this lethal gene can be explained by the fact that CF carriers, who don't show any symptoms, enjoy some protection against cholera?, since the extreme water loss in the intestines is prevented. People from areas where cholera is not a problem show a much lower incidence of CF. |
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