CFTR gene mutations

Braun A, Little DP, Koster H. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin Chem 1997 43 1151-1158. 

CFTR gene mutation CFTR protein dysfunction V impaired mucociiiary ciearance Recurrent infection and infiammation Bronchiectasis and ioss of iung function... 

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR), a chloride (CF) channel characterised by chloride permeability and secretion, and also by the regulation of other epithelial ion channels (Eidelman et al, 2001). Mutations in the CFTR gene lead to an impaired or absent Cl conductance in the epithelial apical membrane, which leads to defective Cl secretion and absorption across the epithelium. Genistein (Illek et al, 1995 Weinreich et al, 1997) and other flavonoids (Illek and Fisher, 1998) have been shown, in different animal and tissue models, to activate wild-type CFTR and CFTR mutants by (Eidelman et al, 2001 Roomans, 2001 Suaud et al, 2002) ... 

To take a step closer to defining the function of DNA sequences, the sequences are fluorescence tagged to identify transcriptional activity of genes (but not translation of protein), which then can be related to the disease state or medication. This information allows researchers to hunt for genes that are affected in disease states (e.g., mutation in CFTR gene regulating a chloride channel in cystic fibrosis patients)... 

Robertson NH, Weston SL, Kelly SJ, Duxbury NJ, Pearce SR, Elsmore P, Webb MBT, Newton CR, Little S. Development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene. Eur Respir J 1998 12 477-482. 

Cystic fibrosis is an autosomal recessive disease caused by mutations of the cystic fibrosis transmerobrane conductance regulator (CFTR) gene producing a dysfunctional chloride channel, normally located on the apical membrane of exocrine glands [16]. The disease manifests itself at an early age in the lung with accumulation of thick, sticky mucus and bacterial infections. These infections are followed by an inflammatory response, resulting in an Infiltration of neutrophils... 

Two copies of mutated CFTR gene (Individual affected by CF)... 

If only one copy of mutated CFTR gene then individual is not affected by CF BUT has potential to pass gene on to offspring... 

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