This article discusses the incidence and genetic aspects of cystic fibrosis as well as cloning of the cystic fibrosis gene, mutations, implications for patients, genetic counseling for families with cystic fibrosis, carrier screening, and prospects of definitive therapy....
1.3.5Cystic fibrosis Cystic fibrosisis an autosomal recessive genetic disease characterised by abnormal mucus production and recurrent infections that cause bronchiectasis and ultimately pulmonary fibrosis (Alexander and Keogh, 2005), which can result in pulmonary hypertension. The two most common organisms...
Annotation of variants in CFTR will increase the utility of genetic testing in newborn screening, carrier testing and diagnostic settings. Assignment of variants as disease-causing will validate efforts to target variants for molecular therapies. Small-molecule therapy for cystic fibrosis has been succes...
Cystic fibrosis(CF) is agenetic(inherited) disease that affects mainly the lungs, the pancreas, and the sweat glands. Some CF patients develop serious liver disease. The abnormal CF gene changes the makeup of mucus in the airways, making it thick and sticky. The body cannot clear this thick...
Cystic fibrosis is the most common fatal genetic disease in the United States.───囊肿性纤维化在美国是最常见的致命性遗传疾病。 The study was funded in part by the Cystic Fibrosis Foundation.───此项研究是由囊性纤维化基金会部分资助. Cystic fibrosis is the commonest fatal hereditary disease...
Other diagnostic methods are genetic testing and newborn screening. Cystic fibrosis can cause severe damage to the lungs, digestive system, and other organs. It also affects the production of mucus, digestive juices, and sweat. Normally, these secretions are thin and slippery, but in a person ...
Cystic fibrosisis the most common fatal genetic disease in the United States. 囊性纤维化是美国最常见的致命遗传疾病。 柯林斯例句 Collins wants to avoid repetition of the confusion that followed the discovery in 1989 of thecystic fibrosisgene. ...
2. Genetic Testing. Genetic testing can confirm the presence of cystic fibrosis by identifying specific mutations in the CFTR gene. This test can help diagnose CF in newborns throughnewborn screeningprograms or in individuals suspected of having the condition. ...
12.Prenatal testing can be offered in case of cystic fibrosis. 囊性纤维化的病例可以进行产前检查. 13.Cystic fibrosis causes about half of all bronchiectasis in the United States. 囊性纤维化是美国约一半支气管扩张的原因. 14.These disorders may include cystic fibrosis, hemophilia, sickle cell anemia...
Cystic fibrosis (CF) is the most common severe genetic disease of Caucasians. Recent work by several laboratories has resulted in the identification of the CF gene and its major mutation. These findings have greatly facilitated carrier detection and prenatal diagnosis for members of families with a...