Cystic fibrosis and population genetics

What is CF? Cystic Fibrosis (CF) is one of the most common inherited diseases, affecting about 1 in 3300 live births in the United States. It is most common in Caucasians. CF is a complex multisystem disease that affects the respiratory tract, pancreas, intestine, reproductive tract, and hepatobiliary system. CF causes many parts of the body to produce thick mucus leading to pneumonia, diarrhea, poor growth, and infertility. This is due to the faulty transport of sodium and chloride within cells lining certain organs. Diagnosis The median age at diagnosis is 6 to 8 months; nearly two-thirds of individuals are diagnosed before 1 year of age. The diagnosis of CF is established in individuals with one or more characteristic phenotypic features of CF plus evidence of an abnormality in CFTR function based upon ONE of the following: Presence of two disease-causing mutations in the CFTR gene Two abnormal quantitative sweat chloride values An abnormal value for the transepithelial nasal potential difference (NPD) The sweat test has been the “gold standard“ for diagnosing CF for more than 40 years. It is a diagnostic procedure that determines the amount of sodium and chloride (salt) in the sweat. It is painless, relatively inexpensive, and gives definitive answers. The test can be performed on individuals of any age. A colorless, odorless chemical known to cause sweating is applied to a small area on the arm or leg. An electrode is attached to stimulate a weak electrical current to the area. Patients may feel a tingling sensation in the area or a feeling or warmth. This lasts approximately 5 minutes. The stimulated area is then cleaned, and sweat is collected on filter paper or in a plastic coil. This is analyzed for increased amounts of sodium and chloride. The diagnosis of CF may be made in the absence of phenotypic features of CF in the following circumstances: Confirmed diagnosis of CF in a sibling and an abnormal sweat chloride value or presence of the same two disease-causing mutations in the CFTR gene as identified in the affected sibling. Diagnosis in a newborn screening program. As of November 2001, Colorado, Wisconsin and Wyoming offer CF in the newborn screen. Connecticut, Massachusetts, and Montana either test in a select population, have a pilot program, or are planning to begin CF newborn screening. In utero diagnosis by CFTR mutational analysis. 10.3% of newly diagnosed patients in 1999 were diagnosed by newborn screening or prenatal diagnosis. #BloodType #CellCulture #centromere #mutation #TumorCells #everything #explainEverything #Primers #geneticDrift #Diploid #explain #breeding #ipad #naturalSelection #ExplainEverything #Morphogenesis #breedingExperiment #hardyWeinbergEquilibrium #inbreeding #FrancisCrick #hardyWeinbergPrinciple #Haploid #cytosine #Autosomal #aminoAcids