[Molecular diagnosis of cystic fibrosis].
Cystic fibrosis [CF] is the most common autosomal recessively inherited disease in the caucasian population. Based upon the population frequency of approximately 1 in 2000 in Switzerland, the heterozygote frequency can be calculated to be 1 in 22. The genetic basis for CF has been shown to be mutations in the gene coding for an epithelial membrane chloride channel, the Cystic Fibrosis Transmembrane conductance Regulator [CFTR]. To date over 500 mutations have been characterized in this gene. The frequency of specific mutations varies amongst different ethnic groups. In Switzerland 8 mutations have been shown to account for approximately 90% of all CF causing alleles. The cloning and molecular characterization of the CFTR gene has lead to a major breakthrough in the understanding of the biochemical basis of CF pathogenesis. Advances through analysis of cellular and animal model systems have made a genetic based therapy for CF a real possibility.
Abteilung Medizinische Genetik, Universitätskinderklinik, Basel.
N J
NJ
Malik
M
M
Hergersberg
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000378:metabolism; D003550:Cystic Fibrosis / Q000235:genetics* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000302:isolation & purification; D006580:Genetic Carrier Screening; D015316:Genetic Therapy; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D018118:Chloride Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
Molekulare Diagnose der zystischen Fibrose.