In its most common form, a single amino acid mutation results in abnormal production of a protein responsible for transporting chloride ions across epithelial tissue, resulting in a buildup of a viscous mucus in the lungs.
First described as a disease in the late 1930s, it is the most common genetic disease amongst people of European ancestry, with approximately one in twenty-five carrying one normal gene and one causing it. In its most common form, a single amino acid mutation results in abnormal production of a protein responsible for transporting chloride ions across epithelial tissue, resulting in a buildup of a viscous mucus in the lungs. For ten points, name this autosomal recessive disorder.
First described as a disease in the late 1930s, it is the most common genetic disease amongst people of European ancestry, with approximately one in twenty-five carrying one normal gene and one causing it.
Cystic Fibrosis