Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.

Genes are found on structures in the cells of the body called chromosomes. Each cell normally has 46 total chromosomes, or 23 pairs of chromosomes. The seventh pair of chromosomes has a gene called the CFTR (cystic fibrosis transmembrane regulator) gene.

2025年1月20日 · Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other parts of the body. Mutations in the CFTR gene on chromosome 7 leads to the production of thick, sticky mucus that can block airways and digestive ducts. Patients deal with lung infections and lack of nutrition because the mucus interferes with digestion.

Cystic fibrosis is a disease that is caused by an abnormal gene. An abnormal gene is called a genetic mutation. The gene that causes problems in CF is found on the seventh chromosome.

Each gene occupies a certain location on a chromosome (a thread-like material that is located in the nucleus of every single cell in the body). Chromosomes come in 23 pairs, and each chromosome carries thousands of genes. What happens? Each gene has a specific role in determining how a person's body is put together and how it functions.

Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail.

Cystic fibrosis (CF), a lethal genetic disease, is characterized by substantial clinical heterogeneity. Work over the past decade has established that much of the variation is genetically conferred, and recent studies have begun to identify chromosomal locations that identify specific genes as contributing to this variation.

The development of new genetic models of cystic fibrosis in pigs, ferrets, rats and zebrafish provides opportunities to investigate pathophysiology and to explore therapies at the earliest stages of disease.

At present, Cystic fibrosis is a disease that is caused by an abnormal gene. An abnormal gene is called a genetic mutation.* The gene that causes problems in CF is found on the seventh chromosome. There are. A person must inherit two CF genes to have CF disease.

Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail.