47897
Description
Flashcards by kkraynak11, updated more than 1 year ago
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Created by kkraynak11
almost 13 years ago
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| Question | Answer |
| o Due to a mutation, causes a mucousy thick discharge to develop in lungs and other organs o Builds up and causes compromised ability to oxygenate blood | Cystic Fibrosis |
| o Can’t make pigment in skin | Albinism |
| o Metabolic disorder o Genetic mutation where the affected people make a faulty enzyme that messes up metabolic reactions o Amino acid builds up in cells – can be toxic – can compromise cell function | PKU |
| o Progressive neuro-degenerative disease after about a year o In most cases it is fatal; can live into teens (2nd decade of life) | Tay-Sachs |
| o Only passed down by carriers, not by those affected | Tay-Sachs |
| o Dwarfism o Short long-bones in development | Achondroplasia |
| o Neuro-muscular degenerative disease o Progressive degeneration of motor neurons that instruct muscles to move o Symptoms don’t typically show up until 40s or 50s | Huntington's |
| o Genetic form of seriously high cholesterol | Familial Hypercholesterolemia |
| o Blood clotting deficiency | Hemophilia A/B |
| o Degenerative muscle wasting disorder – skeletal muscles degenerate over time o Will affect more males than females | Duchenne Muscular Dystrophy |
| o Reds and greens look like shades of gray o Affects more males than females | Red/Green Colorblindness |
| o Skin disorder where you develop a scaly appearance to the skin | Ichthyosis |
| Rare Skin condition o Have a lot more hair follicles than normal – mostly see it on face and neck – make dark thick hairs like on your head/eyebrows – werewolf | Hypertrichosis |
| Skin condition o Causes skin rashes in girls; boys die before birth o Blotches become wart-like and hard over time | Incontinentia Pigmenti |
| Albinism | Autosomal Recessive |
| Cystic Fibrosis | Autosomal Recessive |
| PKU | Autosomal Recessive |
| Tay-Sachs | Autosomal Recessive |
| Achondroplasia | Autosomal Dominant |
| Huntington's Disease | Autosomal Dominant |
| - Familial Hypercholesterolemia | Autosomal Dominant |
| Hemophilia A/B | X-Linked Recessive |
| Muscular Dystrophy | X-Linked Recessive |
| Color Blindness | X-Linked Recessive |
| Ichyosis | X-Linked Recessive |
| - Hypertrichosis | X Linked Dominant |
| - Incontinentia Pigmenti | X linked dominant |
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