Genetics of cystic fibrosis.
Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our understanding of the mechanism of CF pathology but has also provided explanations for phenotypic variation. Additionally, genetic testing has refined our ability to identify patients with CF and CF-related illnesses. Genetic mutations may be grouped by class (I-VI) and are directly related to the quantity of CFTR protein produced. This has direct implications regarding the severity of disease and has suggested organ-specific sensitivity to the presence of normally functioning CFTR. Further, it has improved understanding of the mechanism behind seemingly organ-specific manifestations of CF, such as congenital bilateral absence of the vas deferens (CBVAD).
Lommatzsch
Sherstin T
ST
Division of Pulmonary and Critical Care Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599, USA.
Aris
Robert
R
D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D014649:Vas Deferens / Q000002:abnormalities
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator