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13 Cards in this Set
- Front
- Back
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What are 3 dominant disorders
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1. Retinoblastoma, 2. postaxial polydactyly, 3. achondroplasia
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Autosomal recessive inheritance
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Skips generations
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What are the autosomal recessive diseases?
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1. Albinism, 2. cystic fibrosis
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What is the problem in cystic fibrosis
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Disrupts chloride transport ->affects pancreatic secretions due to clogging of ducts -> enzymes do not reach intestine; excessive chloride in sweat
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Define: germline mosaicism
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Mutations occurs in one of many cells??
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Define: delayed age of onset
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Some disorders you don’t see till adult hood
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Define: reduced penetrance
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Mild phenotype -> non existant in some
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Age-dependent penetrance
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Delayed onset + reduced penetrance at the same time
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Neurofibromatosis
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Autosomal dominant -> tumors -> café aulait spots
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Define: pleiotropy
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Multiple effects from one mutation
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Marfan syndrome
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Defect in collagen synthesis
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Define: allelic heterogeneity
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Multiple mutant forms -> different effects -> same gene; (ie sickle cell and beta-thalassemia)
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Define: locus heterogeneity
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Multiple genes affect one pathway(ie different urea cycle disorders)
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