BIO 440 Study Guide - Quiz Guide: Mendelian Inheritance, Personalized Medicine, Genetic Marker

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How to study: read the corresponding chapters in the book (chapters 1-5). Describe the features of the diseases we discussed in class and the corresponding genes and mutations. Describe the normal function of the genes (if we discussed this in class) and why mutations in these gene result in a disease. If presented with a pedigree you should know how to determine if a trait is x-linked, autosomal recessive or dominant. How to interpret lod curves and what type of information you would know to calculate them. Describe in general terms how epigenetic marks, such as methylation, regulate gene expression. Describe the different effects dna sequence variant can have on proteins. Describe how single base pair mutations can alter the amino acid sequence and name these types of variations. Describe the genetic defect responsible for cmt. In reference to the pmp22 gene describe the different type of chromosomes that arise (ie duplications vs deletion vs wiltype).

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