作者: Gerd Döring
DOI: 10.1007/978-1-4615-3036-7_13
关键词: Membrane protein 、 Cystic fibrosis transmembrane conductance regulator 、 Mutation 、 Gene 、 ΔF508 、 Molecular biology 、 Cystic fibrosis 、 Mutant 、 Pseudomonas aeruginosa 、 Biology
摘要: Cystic fibrosis (CF) is the most common lethal genetic disease in white populations, affecting approximately 1 2000 to 4000 live births Europe and North America.1 Fifty-three years after it was first described,2 gene responsible for generalized metabolic disorder identified on chromosome 7.3–5 It expressed a variety of tissues that are affected CF patients, such as lungs, pancreas, liver, sweat glands, nasal epithelia. The encodes membrane protein probably regulates ion transport and/or an channel itself, therefore named “Cystic Fibrosis Transmembrane Conductance Regulator” (CFTR). major mutation CFTR, present about 70% mutant chromosomes, deletion single amino acid residue at position 508. frequency ΔF508 varies considerably depending geographic location; so far, more than 60 mutations CFTR differing from have been reported patients.6