Genetic Disorders - Central Bucks School District



Genetic Disorders

Chapter 14

|Disease |Type of Inheritance |Symptoms/ Facts |

|Cystic Fibrosis |Autosomal Recessive |● 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 |

|Tay-Sachs Disease |Autosomal Recessive |● Brain cells have a defective enzyme that does not metabolize lipids; therefore lipids build up on |

| | |the brain |

| |(incomplete dominance at |● The buildup causes the brain to not function properly and leads to seizures, blindness, and |

| |molecular level) |degeneration of motor and metal performance |

| | |● Death within several months |

| | |● Common among Ashkenazic Jews (ancestors from central Europe) |

|Sickle Cell Disease |Autosomal Recessive |● Most common inherited disease in African Americans |

| | |● Caused by substitution of one amino acids in the hemoglobin protein of red blood cells |

| |(demonstrates pleiotropy) |● 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 |

| |(Codominant at molecular |● Being a carrier (heterozygous) is beneficial because if makes you resistant to malaria (which is |

| |level) |common in tropical Africa) |

|Phenylketonuria (PKU) |Autosomal Recessive |● Screened for at birth |

| | |● Cannot properly break down AA phenylalanine, which can accumulate to toxic levels and cause mental|

| | |deterioration |

| | |● Put on strict diet and usually develop normally |

|Achondroplasia |Autosomal Dominant |● Dwarfism |

| | |● Homozygous dominant = lethal |

| | |● Heterozygous = dwarf |

| | |● Homozygous recessive = normal height |

|Huntington’s Disease |Autosomal Dominant |● 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 |

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