Human+Genetics+2+WB

Define: carriers autosomal recessive disorder autosomal dominant disorder autosomes sex chromosomes sex linked X linked X linked dominant X linked recessive Describe diseases (You will need to know how they are inherited ie X-linked recessive or autosomal dominant. You will also need to know the gene that is mutated and what damage that causes to the body) Tay-sachs Cystic Fibrosis PKU Sickle Cell Disease Mafan Syndrome Huntington Disease Color blindness Muscular dystrophy Hemophilia

1. Carrier: A carrier is a person with no abnormal traits, but who has the ability to pass on a genetic disorder. Autosomal recessive disorder: When a child receives a certain trait which neither parents show. Autosomal dominant disorder: When a child receives a certain trait that the parents show. Autosomes: All chromosomes besides sex chromosomes. Sex chromosomes: Chromosomes that determine the gender of an individual. Sex-linked: Allele that may be responsible for traits that have nothing to do with sex, but are in the sex chromosomes. X-linked: Located on the X chromosome, and may control something other than the sexual characteristics of a human. X-linked dominant: Causes males to pass a trait only to their daughters. X-linked recessive: The son can have a mutation, even though the parents may not.

2. Tay-Sachs: Develops in many Jewish children between 4-8 months old. The child gradually becomes blind, has seizures, and becomes paralyzed. Tay-sachs is caused by a lack of Hex A. Cystic fibrosis: A buildup of mucous occurs in the bronchial tubes. Cystic fibrosis occurs when chloride ions do not properly pass through the plasma membrane. PKU: The nervous system fails to develop properly. PKU is caused by a lack of the required enzyme for metabolism of phenylalanine. Sickle cell disease: Poor blood circulation occurs due to mishapen red blood cells. Marfan syndrome: Abnormally long arms, legs, and fingers, caused by lack of fibrillin. Huntington disease: Patients experience rapid degeneration of brain cells, caused by a mutation in the copy of a protein called Huntington. Color blindness: Colors are seen differently than they are, such as greens, browns, and blues. Color blindness is an X-linked disorder. Muscular dystrophy: The muscles in the body slowing degenerate, due to a lack of the protein dystrophin. Hemophilia: Cuts or wounds bleed for extended periods of time, and do not clot. Hemophilia is caused by a lack of clotting factors 8 and 9.