Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance.

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    04-Jan-2016

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Inherited DiseasesAutosomal Recessive and Autosomal Dominant Patterns of InheritanceAutosomal RecessiveIs caused by a recessive allele bb.Relatively RareCommon in ethnic groupsCystic FibrosisMost common among white AmericansApproximately 1 and 20 white Americans are carriers.1 in 2000 babies are born with CFIt 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 SystemResults 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 51 in 27 babies are born with the disease.PKU- PhenylketonuriaResults 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 DominanceResults from a dominant allele. Therefore, if the individual has at least 1 allele, the trait will be present.Most dominant diseases are rare.Huntingtons DiseaseResults in the breakdown of certain areas of the brain.Lethalonset is around age 30-50normally pass down allele before they realize they have the trait.Simple Dominant TraitsTongue RollingHapsburg lip (large lower lip)Hanging earlobeshitchhikers thumbalmond shaped eyesthick lipslong eye lashesPresence of hair in middle section of the fingersclose set eyes (distance between the eyes)Hair texture (curly is dominant)Polydactyl- 6 fingers. Rare but dominant.

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