[Molecular diagnosis of cystic fibrosis]

Autor:	Nj, Malik, Martin Hergersberg
Předmět:	Phenotype Adolescent Cystic Fibrosis Genotype Chloride Channels Child Preschool Genetic Carrier Screening Infant Newborn Cystic Fibrosis Transmembrane Conductance Regulator Humans Point Mutation Genetic Therapy Child
Zdroj:	Europe PubMed Central
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5728c969815ed53b015ba2284c1c1e http://europepmc.org/abstract/med/8539650 Zobrazit plný text záznamu