![]() Tsui’s interest in genetic diseases, and CF in particular, led him to seek out the underlying genetic cause for CF while analyzing the genes on human chromosome 7. Geneticist Lap-Chee Tsui discovered the CFTR gene in 1989 along with his team of researchers at The Hospital for Sick Children in Toronto, Canada. Mutations to the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene causes approximately seventy percent of cystic fibrosis cases, although its frequency varies in different ethnicities. The mutated gene may remain undetected in many individuals simply because they never have children with another CF carrier, and if they never have any offspring with CF, they will likely never know themselves to be carriers. ![]() Two parents who are carriers for the mutated gene have a twenty-five percent chance of passing the disease on to their child, a fifty percent chance that their child will be a carrier for the gene, and a twenty-five percent chance that their child with neither have CF nor carry a CF gene. When an individual has only one copy of the mutated gene, the functional gene is able to compensate for the defect and the individual is healthy. Rather, cystic fibrosis is inherited when an individual receives a mutated copy of the gene associated with cystic fibrosis from both parents. While there is no cure for the disease, scientific research has made it possible to detect the disease in the early stages of development when treatments can alleviate certain symptoms.Ĭystic fibrosis is an autosomal recessive disorder, meaning that is not inherited solely from the mother or father as in sex-linked disorders. When the pancreatic ducts are blocked, the individual may grow abnormally slowly and fail to gain weight, despite having a good appetite. The mucus may also obstruct the pancreas, hindering the body’s ability to break down food and absorb nutrients. The buildup of mucus in the lungs often causes persistent coughing, wheezing, and shortness of breath. Abnormally thick and sticky mucus buildup, particularly in the respiratory tract, causes chronic lung infections that can lead to life-threatening illness. However, infants born with CF typically have a low birth weight, are sick, and may be diagnosed with failure to thrive. Unlike disorders such as Down Syndrome and Fetal Alcohol Syndrome, CF does not cause characteristic visible abnormalities. There are an estimated 30,000 reported cystic fibrosis cases in the US, and 70,000 reported cases worldwide, although the international number is undoubtedly low due to underreporting or early deaths. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene. The abnormally thick mucus prevents the pancreas from functioning normally it often leads to digestive problems and chronic lung infections. Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts.
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