Cystic fibrosis: Difference between revisions
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Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel. The most common mutation is ΔF508 in which the [[Codon|triplet code]] for the [[Amino acid|amino acid]] [[Phenylalanine|phenylalanine]] is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis. | == Cystic Fibrosis == | ||
Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the Caucasin UK population, in which the [[Codon|triplet code]] for the [[Amino acid|amino acid]] [[Phenylalanine|phenylalanine]] is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis. | |||
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== Classes of CFTR Mutations == | |||
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Class I: [[Premature Stop Codon|Premature Stop Codons]] | |||
Class II: [[Abnormal Processing|Abnormal Processing]] | |||
Class III: [[Altered Regulation|Altered Regulation]] | |||
Class IV: [[Conductance Defect|Conductance Defect]] | |||
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] | |||
Revision as of 11:24, 8 November 2010
Cystic Fibrosis
Cystic Fibrosis is an autosomal recessive disease located on chromosome 7. Cystic Fibrosis is caused by a mutation to the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the Caucasin UK population, in which the triplet code for the amino acid phenylalanine is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.
Classes of CFTR Mutations
Class I: Premature Stop Codons
Class II: Abnormal Processing
Class III: Altered Regulation
Class IV: Conductance Defect
Class V: Reduced Protein Synthesis