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Autosomal Dominant Conditions
Huntingtons Disease: nervous system degeneration. Protein accumulated in disease
Achondroplasia: Dwarfism by limiting limb growth
Hypercholesterolemia: excess cholesterol in blood that progresses to heart disease
Autosomal Recessive Conditions
Phenylketonuria (PKU): inability to produce the proper enz breakdown of the amino acdi phenlalanine, causing a certain degreatdation product to accumulate = health issues.
Phenylalanine breakdown ability, leading to phenylpyruvic acid accumulation
Cystic Fibrosis: Fluid buildup in respiratory tract. Transport of salt and h2o disruption
Tay-Sachs: Inability to break down lipids, affecting brain function —> defect in lysosomes so cells can’t break down lipids properly
Sickle Cell Anemia: Defected hemoglobin due to substitution
Galactosemia: Can’t break down galactose properly = organ damage
Sex- Linked Recessive Conditions
Hemophelia: Abnormal blood clotting
Color Blindness: Inability to see color (Primarily in males)
Duchenne’s Muscular Dystrophy: Progressive loss of muscle
Chromosomal (Aneuploidy) Disorders
Down’s Syndrome (Trisomy 21): Extra copy of Chromie 21 (affects intellectual ability)
Turner’s Syndrome: Partiall/missing x chromie (Sterile)
Klinefelter’s Syndrome: Extra X chromie (XXY) in males (sterile)
Cri Du Chat: Piece of chromie 5 missing (affects intellectual ability)