Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in ...
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 ...
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...
Genetics and Epithelial Cell Dysfunction in Cystic Fibrosis This book examines the advances being made in the study of the physiology, cell biology, and molecular genetics of cystic fibrosis. Emphasis is placed on v... Brock,D J H - 《Journal of Medical Genetics》 被引量: 14发表: 1988年 ...
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 ...
In a population genetics study of cystic fibrosis (CF), we investigated the state of health of 1276 first cousins of CF index patients. Six hundred seventy-five married aunts and uncles (siblings of CF index patients' mothers and fathers) who had at least one child were interviewed. In onl...
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 ...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European descent) can be explained by different hypotheses that... G Romeo,M Devoto,LJV Galietta - 《Human Genetics》 被引量: 247发表: 1989年 Factors associated with the sex ratio in human populations...
CYSTIC FIBROSIS1 essaysAccording to old northern European folklore, a child that tasted salty when kissed upon the forehead was bewitched and would soon die. Today we know the reason -the genetic disease, cystic fibrosis or CF. It is a chronic, progre
Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in Caucasians with the frequencies varying from 1 in 3000 newborns in an average Caucasian population up to 1 in 313 in Hutterites living in Alberta (Canada) [1]. Show abstract Novel Pooling Strategies for Genetic Test...