Cystic fibrosis (CF) is a severe, life-shortening autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that cause abnormal ion transport across epithelial cells and multiorgan disease. Progressive lung disease characterized by airway ...
Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an ...
The identification of the cystic fibrosis (CF) gene and within that gene the most frequent mutation is of major importance. The genotype/phenotype relationships in large study populations give a better insight in the clinical variability of CF. Variability between different CF patients is also detect...
Abstract Cystic fibrosis (CF) is a genetically inherited and potentially fatal disease. In the Western world, 1 in 23 people carry the defective gene. This article outlines the genetics of CF and its mode of inheritance and examines what types of carrier screening are available. The carrier fre...
Cystic fibrosisGenetic modifiersLinkageGenetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the ...
Molecular genetics was originally used in medicine to map and identify the major single gene disorders, such as cystic fibrosis1 and polycystic kidney ... J Bell - 《Bmj British Medical Journal》 被引量: 315发表: 1998年 IMPLICATIONS OF THE NEW GENETICS FOR SCREENING FOR CYSTIC FIBROSIS Since ...
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...
囊性纤维化(cystic fibrosis,CF),也被称为囊性纤维变性。是由囊性纤维化转膜传导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因突变导致的多系统疾病。是高加索人种最常见的常染色体隐性遗传疾病之一。 不同国家和地区报道的发病率不一,新生儿发病率约1/1800~25000。亚洲和非洲发病人数远远少于...
While cystic fibrosis is a complex and serious condition, people with CF areliving longerthan ever thanks to aggressive research into new treatments and the genetics of CF. The first step in getting treatment is to contact the nearest care center accredited by the Cystic Fibrosis Foundation. These...
The incidence of cystic fibrosis (CF) in Finland is one tenth that in other Caucasian populations. To study the genetics of CF in Finland, we used a combined molecular and genealogical approach. Out of the 20 Finnish families with a living CF patient, 19 were typed for eight closely linked...