Cystic fibrosis (CF) is the most common life-shortening autosomal recessive genetic disorder in the Caucasian population. CF is due to mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, located on chromosome 7 at 7q31.2, which encodes a cyclic AMP-activated chloride channel [1...
4 ⅐ No. 6 editorial Cystic fibrosis carrier screening: Issues in implementation The transition of testing in the cystic fibrosis transmem- brane conductance regulator (CFTR) gene to a prenatal and preconceptional carrier screening program1,2 has been both interesting and informative. The long-...
Approximately one in every 25 people of European descent is a carrier for the cystic fibrosis gene, having one normal gene and one CF gene. Since cystic fibrosis is recessive, both copies of the gene have to be CF genes to cause the symptoms that occur in about 1 in every 2500 children....
Candidate and genome-wide approaches have identified biologically plausible gene modifiers of lung disease severity, neonatal intestinal obstruction and diabetes in cystic fibrosis. Annotation of variants in CFTR will increase the utility of genetic testing in newborn screening, carrier testing and diagnosti...
STUDY OBJECTIVE: Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. DESIGN: A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two ...
Although CF carrier information will be of benefit to some individuals and couples, the inability of conventional prenatal diagnosis to provide definitive diagnostic outcomes to some couples, specifically those couples in which only one partner has a detectable mutation, will make for considerable ...
Cystic fibrosis (CF) is an autosomal recessive disorder that is common in individuals of European descent. It is caused by mutations in the CFTR gene, which encodes the CF transmembrane conductance regulator (CFTR) protein. These mutations result in defective chloride (Cl-) channels. Mandated new...
Cystic fibrosis is caused by a mutation in the cystic fibrosis membrane conductance regulator (CFTR) protein. Mutations in the responsible gene, located on chromosome 7, lead to an absent, nonfunctional, or partially functional protein, with resultant abnormal fluid and electrolyte transport across ...
The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein,...
Cystic Fibrosis Causes Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). The protein in this gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work properly, a sticky...