AP Biology
FRQ #1 - Genetic Diseases
|Cystic Fibrosis |
|Cause |Pattern of Inheritence |Pathology |
|Deletion on Chromosome 7 |Autosomal Recessive |Increase [Cl-] inside the cell causing the build up of|
| | |mucus in the Extra Cellular Fluid (ECF) outside the |
| | |cell. Effects mainly the lungs and digestive organs. |
|Protein: | | |
|Cystic Fibrosis Transmembrane Regulatory Protein | | |
|(CFTR) | | |
| | | |
|Tay-Sachs Disease |
|Cause |Pattern of Inheritence |Pathology |
|Mutation on Chromosome 15 |Autosomal Recessive |* Lysosome storage disorder |
| | |* Gangliosides build up in nerve |
| | |cells in the brain, destroying |
| | |brain cells. |
|Protein: Hexosaminidase | | |
| | | |
|Sickle-Cell Disease |
|Cause |Pattern of Inheritence |Pathology |
|Single Base Pair Substitution Mutation on |Autosomal Recessive |A condition in which there aren't enough healthy red |
|Chromosome 11 | |blood cells to carry adequate oxygen throughout your |
| | |body. |
| | | |
|Protein:Hemoglobin | | |
| | | |
|Phenylketonuria (PKU) |
|Cause |Pattern of Inheritence |Pathology |
|Mutations on Chromosome 12 |Autosomal Recessive |A dangerous buildup of phenylalanine can develop when |
| | |a person with PKU eats foods that are high in it. This|
| | |can eventually lead to serious health problems |
| | |(irreversible brain damage). |
| | | |
|Protein:Phenylalanine Hydroxylase | | |
| | | |
|Adrenoleukodystrophy (ALD) |
|Cause |Pattern of Inheritence |Pathology |
|Mutations on the X Chromosome |Sex-Linked Recessive |(See Movie Notes) |
| | | |
| | | |
|Protein: (See Movie Notes) | | |
| | | |
|Hemophilia |
|Cause |Pattern of Inheritence |Pathology |
|Mutations on the X Chromosome |Sex-Linked Recessive |The ability of the blood to clot is severely reduced |
| | |causing the sufferer to bleed severely from even a |
| | |slight injury. |
| | | |
|Protein: Clotting Factor VIII | | |
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