ElectricalPropNeurons1 - Zach Nuffer Section: Tues. 10:15...

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Zach Nuffer Section: Tues. 10:15 1. A gain of function mutation is a mutation that results in new or increased function in the protein that the gene codes for. 2. The process of linking a gene to a phenotype begins by performing a genome-wide linkage study, in which an association between a genetic sequence and the phenotype in question is analyzed for a large group of individuals displaying that phenotype. Further refinement of the region of DNA can be obtained using other study-specific methods (e.g. haplotype analysis, autozygosity mapping). Once the gene is isolated, the affect of the protein is codes for can be studied using knock-out mice. In these studies, genes are removed (knocked-out) from the early cell stages of mice so that their lack of expression in an area of interest can be studied, and from this, their function inferred. 3. The gene encoding the Na 1.7 channel undergoes a missense mutation (a point mutation changing a single amino acid), which alters an “important and highly conserved” region of the protein. The result of this change is a hyperpolarizing shift in the channel’s activation voltage dependence. This means that the mutated Na 1.7 will require a smaller depolarization to open (i.e. they open at a more negative potential).
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ElectricalPropNeurons1 - Zach Nuffer Section: Tues. 10:15...

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