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15 Cards in this Set
- Front
- Back
Produces 2 genetically identical daughter cells
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Mitois
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Produces haploid gamets
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Meiosis
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'crossing-over' that occurs during meiosis
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Recombination
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Characteristic number of chromosome pairs per cell
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Diploid cells
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Contain only one member of each homologous chromosome pair
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Haploid cells
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Diploid cells yields four haploid cells
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Meiosis
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Naturally producing too much cholesterol due to this gene
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Familial Hypercholesterolaemia due to LDL receptor gene
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Kidneys form cysts in cortex, forming renal impairment due to this gene
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Polycystic Kidney Disease due to a defect in gene PKD1
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Colon has polyps that may turn cancerous due to this cene
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Familial Adenomatous Polyposis caused by a defect in the APC gene and MUTYH gene
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Schwann cells grow tumours due to defects in these genes
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Neurofibromatosis caused by a defect in C17q(type 1), C22q(type 2)
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A trinucelotide repeat expansion that causes degeneration of neural matter
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Huntington's Disease cause by the Huntingtin gene
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The three apparent exceptions to the autosomal dominant pattern
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Mutation, Reduced Penetrance, Variable expressivity
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Sporadic cases may arise within families by this
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Mutation
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Referring to the reduction proportion of individuals with a given genotype who show the associated phenotype
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Reduced penetrance
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A change is this refers to the nature and severity of the phenotype, but everyone with the genotype shows it
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Variable Expressivity
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