BMS-UY 1004 Study Guide - Quiz Guide: Chorionic Villus Sampling, Chorea, Airway Obstruction
8 Oct 2018
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Prof g didn"t prepare a powerpoint in class, but we went over the diseases inherited as single- gene traits (could be on the practical i think) Cystic fibrosis-a disease characterized by chronic bronchial obstruction and growth reduction, inherited as a recessive trait; people who are heterozygous or homozygous dominant do not have this disease. Galactosemia-an inability to metabolize galactose, a sugar in human milk. Prenatal diagnosis can be performed on cells obtained through amniocentesis or chorionic villi sampling. Phenylketonuria (pku)-an inability to metabolize the amino acid phenylalanine. This disease is inherited as a recessive trait; people who are heterozygous or homozygous dominant do not have this disease. Hungtington"s disease-a mental disorder involving uncontrollable, involuntary muscle movements. The disease occurs relatively late in life, so many affected individuals bear children before they realize that they are carriers.
