MGY299Y1 Lecture Notes - Loss And Gain, Mutation Rate, Molecular Pathology
3 Jun 2013
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Document Summary
Mutation evolution of concern those that lead to pathology. Current research mutation rates less than projected understanding of mutation from disease situations; do not know the mutation rate range of mutation rate per locus is not constant. Clinical phenotype may be many steps away from the gene defect. Loss-of-function mutations consequences that either somehow lead to reduced protein levels, activated proteins due to muations at active site, etc. Lots of time severity of diseae reflects amount of function lost clinical symptoms occur when get to lowest residual level. Loss of function most common in recessive disease. Carriers typically do not have clinical symptoms 50% function is suffic ient for phenotype in these individuals. Some metabolic diseases need to destroy over to 90% to have clinical phenotype . Diseases see multiple genes lead to same disease initially when look at collection of disease does not become obvious becomes obvious when look at identifying number of diseases involved.
