The most common mutation is delta F508, accounting for approximately 70% of all mutations. These mutations can either be homozygous, the same, or heterozygous, different mutations. A person with CF inherits two mutated copies of the CFTR gene. To date, over 700 mutations of the CFTR gene have been identified. However, some of the inherited copies are mutations. Cystic fibrosis is a genetic disorder caused by inheriting a pair of genes that are mutated or not working properly.Įveryone inherits two copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. A person with cystic fibrosis inherits one CF gene from each parent. Cystic fibrosis occurs when both genes in the pair have a mutation. Genes are inherited in pairs, with one gene inherited from each parent to make the pair. When a change occurs in the arrangement of the bases, it can cause the gene not to work properly.Ī structural gene change which can cause a disease or a birth defect is called a mutation. These bases are joined in a specific order for each gene. DNA is made up of four building blocks called bases. The role of a gene is determined by its individual DNA code (deoxyribonucleic acid, the chemical coding for a gene). Chromosomes come in 23 pairs, and each chromosome carries thousands of genes.Įach gene has a specific role in determining how a person's body is put together and how it functions. 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). Genes are responsible for the physical characteristics that each person has (like eye color, facial features, and many health conditions). Genetics and CFĪ gene is the basic unit of heredity. Measuring the amount of salt in the sweat can determine whether or not a person has CF. CF causes a large amount of salt to be lost in the sweat. Persistent cough, wheezing, or recurrent pneumoniaĪ simple, painless test called a sweat chloride test can then be done.Since 1989, when the CF gene was first discovered, research has made great progress in understanding CF.Ī suspicion of CF occurs when some of these symptoms are present: Other children could inherit a single CF gene from just one parent, and thus become a carrier for CF, or they could inherit no CF gene and be completely free from CF. Not every child from this family will necessarily have CF. This can affect vital body functions such as breathing or digestion.ĬF is present at birth because both parents carried a CF gene, and their infant inherited a CF gene from each parent. These thick, sticky secretions plug up the ducts (small tubes) that should carry the secretions either outside of the body or into a hollow organ such as the lungs or the intestines. Glands in the body that usually produce thin, slippery secretions (like sweat, mucous, tears, saliva, or digestive juices) produce thick, sticky secretions. It is a chronic disease that currently has no cure. It mainly affects the lungs and the digestive systems in the body, causing breathing problems and problems digesting foods. Cystic Fibrosis (CF) is one of the most common genetic (inherited) diseases in America.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |