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15 Cards in this Set

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