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Mutation Research Notes

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Biology 3594A
Kathleen Hill

Mutation ResearchFundamental and Molecular Mechanisms of Mutagenesis Sample Exam QuestionsWhat is the hq phenotype Genotype malefemalePhenotypeDont have any fur hqY hqhq An HqX mouse with only one copy of the bad gene ends up losing half of its hairHas retinal degeneration then cerebellar degeneration then rod and cone loss and functionAt the age of a teenager it looks like a really old mouse GenotypeHqY and HqHqHqX is a carrier What is the hq mutation Harlequin mice carry an Xlinked recessive mutation inthe Pdcd8 programmed cell death 8 gene which encodes a protein known as apoptosisinducing factor Aif In normal conditions this is located in the inner and outer mitochondrial membranes but induces apoptosis when fragmented to the nucleus AIF deficiency leads to increased oxidative stess by ROS and decreased ATP productionCompare and contrast PLAP and cII mutant detection assaysDefine and distinguish Mutant frequencymeasures mutation burden at the phenotypic level Mutation patternmutation frequencies specific to the age or tissues of the organism For example an increase in GG to TT mutat
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