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17 Cards in this Set
- Front
- Back
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Define Genetic Variability
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The difference of the phenotype (trait) produced by the same genotype.
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In osteogenesis imperfecta, which Type is considered a worse outcome? why?
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Type 2, they die early in infancy
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What are the traits associated with osteogenesis Imperfecta type 1?
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Blue sclera
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What are the traits associated with osteogenesis imperfecta type 2?
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Multiple uterine fractures
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Define Incomplete penetrance
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A mutant genotype may or may not produce a mutant phenotype.
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BRCA1 and BRCA2 are examples of what?
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Incomplete penetrance.
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Define genetic heterogeneity
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Similar phenotype produced by the different mutations
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What is a polymorphism?
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multiple alleles for a gene
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What is a polygenic trait?
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a phenotype determined by multiple genes
Poly- many, Genic- gene |
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What is a pleiotropic trait?
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A single gene controlling multiple traits.
ex: cystic fibrosis, marfan's, NF1 |
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Give an example of Codominance?
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Blood types! Different alleles inducing independant effects on the phenotype.
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Mitochondrial inheritance is defined as a pattern that.....
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transmits from MOTHERS to ALL children regardless of sex. But is NEVER transmited from father to child.
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what are two diseases that are passed on by mitochondrial inheritance?
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Leber hereditary optic neuropathy and Kearn-sayre syndrome
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Fragile X syndrome is unique in that it is considered a _____ event.
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anticipatory event, increasing the CGG repeat will increase the severity of the disease
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What are the disorders associated with epigenetic imprinting?
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Prader-willi and Angelman syndrome
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In prader willi you get _____ methylation
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Paternal
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In angelman syndrome you get _____ methylation
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maternal
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