Cystic fibrosis

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== 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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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|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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Class II: [[Abnormal Processing|Abnormal Processing]]  
 
Class II: [[Abnormal Processing|Abnormal Processing]]  
  
Class III: [[Altered Regulation|Altered Regulation]]
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Class III: [[Altered Regulation|Altered Regulation]]  
  
 
Class IV: [[Conductance Defect|Conductance Defect]]  
 
Class IV: [[Conductance Defect|Conductance Defect]]  
  
 
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]
 
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

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