Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance Autosomal Recessive Is caused by a recessive allele bb. Relatively Rare Common in ethnic groups Cystic Fibrosis Most common among white Americans Approximately 1 and 20 white Americans are carriers. 1 in 2000 babies are born with CF It is due to a defective protein in the plasma membrane, it results in the formation & accumulation of thick mucus in the lungs and digestive tract. Tay-Sachs Affects the Central Nervous System Results in the absence of an enzyme that breaks down lipids in the CNS. Common in Amish, and Ashkenzic Jews. Babies only live to around the age 5 1 in 27 babies are born with the disease. PKU- Phenylketonuria Results in the absence of enzyme that converts phenylalanine into tryosine. Therefore it accumulates in the body and results in damage to the CNS. Most common in Sweden and Norway. Causes mental retardation. Can be controlled by removing foods that contain phenylalanine in their diets. Autosomal Dominance Results from a dominant allele. Therefore, if the individual has at least 1 allele, the trait will be present. Most dominant diseases are rare. Huntington’s Disease Results in the breakdown of certain areas of the brain. Lethal onset is around age 30-50 normally pass down allele before they realize they have the trait. Simple Dominant Traits Tongue Rolling Hapsburg lip (large lower lip) Hanging earlobes hitchhiker’s thumb almond shaped eyes thick lips long eye lashes Presence of hair in middle section of the fingers close set eyes (distance between the eyes) Hair texture (curly is dominant) Polydactyl- 6 fingers. Rare but dominant.