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9 Cards in this Set
- Front
- Back
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Single Base Pair Change cascase |
Single bp change in DNA sequence Transcribed into mRNA Single aa change in the gene product Mutant protein Change in cell phenotype Disease |
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Mutation General Overview |
Change in DNA that is stable Genetic code is degenerate Effect of variation depends on the chemical different between old and new amino acids -Conservation vs non-conservation -Acidic, basic, polar, non-polar AUG codes Met = start codon |
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Classes of mutations |
Single base pair substitution Insertion/deletion Expansion of trinucleotide repeat sequences |
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Single base Pair Substitutions (Sickle Cell is an Example) |
Missense mutation: Single aa substitution, protein with potentially altered function Nonsense: Formation of a termination codon, trucated protein Changes in non-coding regions: RNA splicing, lack of an exon, abnormal protein Mutations in regulatory sequence: Altered transcription level, reduction or elimination of gene product Mutations in RNA translation: Altered transcript stability, reduction of gene product |
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Insertion or Deletions |
Frame shift: 1 or 2 bp affects reading fame, altered or absent gene product Large numbers of bps: Loss of gene function, MD and example |
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Expansion of Trinucleotide Repeat Sequences |
Repeat of a codon Number can vary, unstable Alters protein structure Examples: -Huntingtons: CAG repeats -Freidrichs Ataxia -Fragile X syndrome |
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CAG Repeats |
Late onset of neurone loss Autosomal dominant Stretches of Gln at amino acid terminal Metabolic stress on neurones |
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Fragile X Syndrome |
Autism CGG repeats are hyper methylated on cytosine phosphat gyanine CGG repeats rich in promoter region |
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Freidrichs Ataxia |
Degeneration of cellebellum Walking, speech and control progressively more difficult |
