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4 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Inheritance of alpha 1 antitrypsin deficiency |
Codominant |
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Variability vs penetrance |
Variability: severity varies among affected individuals Penetration: proportion of affected individuals that will show disease |
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Diseases famous for germline mosaicism |
Osteogenesis imperfecta Duchenne muscular dystrophy |
Children will have disease Parents will test negative in genetics as DNA test is usually on somatic cells. Even some germline cells will be negative |
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Production of multiple effects by a single gene mutation |
Pleiotrophy |
Effect of mutation varies among different organ systems |
