Genetic Disorders

Cystic Fibrosis Phenotype Mutation Inheritance Treatment A genetic disorder in which the body has a faulty protein that causes problems in the lungs and digestive organs. The faulty protein causes the body to produce too much mucus. This mucus makes it hard for the person to breathe and digest. The mucus is also a breeding ground for bacteria so the person with this disorder is very prone to infections. Mutation Mutation of the CF gene on chromosome 7. Inheritance A person needs 2 autosomal recessive alleles to show the disorder. Treatment There is no cure. Treatments include trying to drain the lungs by breaking up the mucus. Today patients can use a vest which can shake them to loosen the mucus.

Cystic Fibrosis

Sickle Cell Anemia Phenotype Mutation Inheritance Treatment Individuals produce abnormal hemoglobin protein. Hemoglobin is the part of a red blood cell that carries oxygen. The RBC’s have an abnormal shape. People with this disorder suffer from lack of O2 in the blood, experience weakness, and may develop blood clots. Mutation Mutation of the hemoglobin gene on chromosome 11. Inheritance A person with 2 recessive alleles has the full blown disorder. A person who is heterozygous will have some normal RBCs and some sickle shaped RBCs. Treatment There is no cure. People are given drugs to relieve the pain and prevent blood clots.

Sickle Cell Anemia

Hemophilia Phenotype Mutation Inheritance Treatment A genetic disorder in which the individual does not produce a special protein vital to blood clotting. These individuals must be careful to avoid cuts, bruises, etc. Mutation Mutation in a gene located on the X chromosome. Inheritance The disorder is sex-linked. The individual carries the faulty gene on the X chromosome. Therefore, more males tend to have the disorder Treatment These individuals receive injections of blood clotting protein.

Hemophilia Skylar:Hemophilia Treatment (11:14)

Tay Sachs Disease Phenotype Mutation Inheritance Treatment A genetic disorder in which an individual does not have a special protein to break down fat in the brain. Without the protein, fat builds up causing loss of mental and motor skills. Mutation Mutation in a gene located on chromosome 15. Inheritance A person needs 2 autosomal recessive alleles to show the disorder. Treatment There is no cure or effective treatment. Patients do not normally live past 5 years.

Tay Sachs Disease Every person of Jewish, Irish, or French- Canadian heritage is advised to be tested. One Wrong Letter Video