BIO SCI 97 Lecture 15: Lecture 15 Notes

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Document Summary

Mutation - can be described in many ways. In regards to the physical changes that occur at the dna level, point, insertoin, deletion, substitution. In regards to coding - frameshift and splicing mutants. In regards to location in gene - exonic, intronic, and regulatory. In regards to the effect on phenotype/ function - null, hypomorph, hypermorph, neomorph, and dominant negative. In terms of transmission, germline, somatic, de novo, inherited. Ex. an insertion in the exon of gene y causes a frameshift leading to a null mutation. Point mutation - most often, gene mutations substitute, add, or delete one or more dna. These localized mutations are called point mutations, and can occur anywhere in base pairs the genome. Point mutations have varied consequences depending on the type of sequence change and the location of the affected part of the gene due to the redundancy of the genetic code.