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Genetic Disorders Chapter 14 Disease Type of Inheritance Cystic Fibrosis Autosomal Recessive Tay-Sachs Disease Autosomal Recessive (incomplete dominance at molecular level) Sickle Cell Disease Autosomal Recessive (demonstrates pleiotropy) (Codominant at molecular level) Phenylketonuria (PKU) Autosomal Recessive Achondroplasia Autosomal Dominant Huntington’s Disease Autosomal Dominant Symptoms/ Facts ● Most common lethal genetic disease in US ● Recessive phenotype chloride ion transport channels are defective, which leads to abnormally high Cl- outside of the cell ● High level of Cl- leads to mucus production which builds up in the pancreas, lungs, digestive tract leads to bacterial infections ● when immune cells come to treat the infection, their remains add to the mucus bad cycle ● Brain cells have a defective enzyme that does not metabolize lipids; therefore lipids build up on the brain ● The buildup causes the brain to not function properly and leads to seizures, blindness, and degeneration of motor and metal performance ● Death within several months ● Common among Ashkenazic Jews (ancestors from central Europe) ● Most common inherited disease in African Americans ● Caused by substitution of one amino acids in the hemoglobin protein of red blood cells ● When oxygen content low, sickle cell hemoglobin molecules crystallize into rods sickle shape ● Symptoms wide range; low # of RBC’s, fatigue, sharp pains, and infections ● Being a carrier (heterozygous) is beneficial because if makes you resistant to malaria (which is common in tropical Africa) ● Screened for at birth ● Cannot properly break down AA phenylalanine, which can accumulate to toxic levels and cause mental retardation ● Put on strict diet and usually develop normally ● Dwarfism ● Homozygous dominant = lethal ● Heterozygous = dwarf ● Homozygous recessive = normal height ● Deterioration of the nervous system ● Does not show until mid to late 30’s at that point may have already passed it on to offspring ● Leads to death