An introduction to the genetics of the cystic fibrosis gene

Cystic fibrosis CF is an inherited disease caused by a defective gene, which affects tissues that produce mucus secretions. Affected organs typically include the lungs, the gastrointestinal tract, the pancreas and the liver. Cystic fibrosis can also affect the sweat glands and the male reproductive system.

An introduction to the genetics of the cystic fibrosis gene

Abstract The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. 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 lethalautosomal 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 important part in cystic fibrosis research 25 years after the d iscove1y of the disease-causing gene.

Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2, to 3, white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17, African Americans and 1 in 31, Asian Americans. Cystic fibrosis (CF) is a genetic disease that is characterized by unnaturally thick and sticky mucus buildup that can harm the body’s organs, particularly the lungs and pancreas If not diagnosed early or managed properly, cystic fibrosis can hamper a person’s quality of life and even lead to early death. The genetics of cystic fibrosis The Leeds Method of Management. April, The genetics of Cystic Fibrosis [online]. Leeds Regional Adult and Paediatric Cystic Fibrosis Units, St James's University Hospital, Leeds, UK.

Cystic fibrosis OMIM is a life-limiting autosomal recessive disorder that affects 70, individuals worldwide. The condition affects primarily those of European descent, although cystic fibrosis has been reported in all races and ethnicities.

Abnormally viscous secretions in the airways of the lungs and in the ducts of the pancreas in individuals with cystic fibrosis cause obstructions that lead to inflammation, tissue damage and destruction of both organ systems FIG 1.

Other organ systems containing epithelia -such as the sweat gland, biliary duct of the liver, the male reproductive tract and the intestine -are also affected.

Loss of pancreatic exocrine function results in malnutrition and poor growth, which leads to death in the first decade of life for most untreated individuals. Replacement of pancreatic enzymes and intensive therapy guided by multidisciplinary teams have revolutionized the treatment of cystic fibrosis, resulting in progressive improvements in survival to a median predicted age of 37years for children born with cystic fibrosis today 1.The genetics of cystic fibrosis The Leeds Method of Management.

April, The genetics of Cystic Fibrosis [online]. Leeds Regional Adult and Paediatric Cystic Fibrosis Units, St James's University Hospital, Leeds, UK.

An introduction to the genetics of the cystic fibrosis gene

Cystic fibrosis is a disease whose most important symptom is the secretion of large amounts of mucus into the lungs, resulting in death from a combination of effects but usually precipitated by upper respiratory infection.

The genetics of cystic fibrosis The Leeds Method of Management. April, The genetics of Cystic Fibrosis [online]. Leeds Regional Adult and Paediatric Cystic Fibrosis Units, St James's University Hospital, Leeds, UK.

Cystic fibrosis (OMIM ) is a life-limiting autosomal recessive disorder that affects 70, individuals worldwide. The condition affects primarily those of European descent, although cystic fibrosis has been reported in all races and ethnicities.

Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. INTRODUCTION. Cystic fibrosis (CF) is a multisystem disease affecting the lungs, digestive system, sweat glands, and the reproductive tract.

An introduction to the genetics of the cystic fibrosis gene

Patients with CF have abnormal transport of chloride and sodium across secretory epithelia, resulting in thickened, viscous secretions in the bronchi, biliary tract, pancreas, intestines, and reproductive system [].

Introduction to Genetic Testing - Genetics Generation