Mutations

Mutations - Gene Mutation Mutatio n A change from one...

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Gene Mutation
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Mutatio n - A change from one hereditary state to another - Due to an alteration in the DNA of an organism - A gene changes from one allelic form to another
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Transition : Replacement of one base with a different base of the same chemical category (i.e. purine to purine or pyrimidine to pyrimidine) A G CTA T C GAT A A CTA T T GAT A GCTA T CGAT G GCTA C CGAT Transversion : Replacement of one base with a different base of other chemical category: (i.e. purine to pyrimidine or pyrimidine to purine). A G CTA T C GAT A T CTA T A GAT A GCTA T CGAT T GCTA A CGAT Point Mutations
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5’-ACG UAU GCG -3’ mRNA 3 rd nucleotide changes UAG = stop UAA = stop UAC = Tyr Thr Tyr Ala protein UGU = Cys UCU = Ser UUU = Phe 1 st nucleotide changes GAU = Asp AAU = Asn CAU = His nonsense silent Missense Non-conservative Missense Conservative Possible Point Mutations in a Tyr Codon
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5’-A C G UAU GCG CUA GCG -3’ mRNA Thr Tyr Ala Leu Ala protein Frameshift Mutations deletion of C 5’-AG U AU G CGC UAG CG. .. -3’ mRNA Ser Met Arg Stop protein
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exon exon intron Coding Region Transcription regulatory regions RNA splicing Poly A site RNA processing Possible Effects of Mutations on Genes
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Increased or novel gene function DOMINANT Loss-of-function: Decreased gene function Generally recessive, unless haploinsufficient Null: Complete loss of gene function. Remember: Dominant and Recessive refer to
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Mutations - Gene Mutation Mutatio n A change from one...

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