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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