4 - CTG Trinucleotide Repeat Big Jumps: Annie Hatmaker,...

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CTG Trinucleotide Repeat ‘‘ Big Jumps ’’ : Annie Hatmaker, Sarah Kim, Kim McCullough, Chavonda Thompson, Lindsey Wheeler Bio 240– Section 8
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Trinucleotide repeats Complexity Duplication of short repeated sequences 3-base-pairs Most common: CTG/CAG
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5/5/11 Trinucleotide Repeat Diseases Spinocerebellar ataxias Huntington's disease Myotonic dystrophy type 1 (DM1) Fragile X syndrome
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5/5/11 Size Matters Size of repeat linked to severity Increase in size every generation “Big Jumps” - large expansions
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5/5/11 Failure of transgenic mice to show big jumps Finally, it works First time mice show abnormalities & large expansions in trinucleotide repeats
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Click to edit Master subtitle style 5/5/11 Purpose: To examine CTG trinucleotide repeats aka “big jumps” in mice and see if they are related to abnormalities seen in subsequent generations of transgenic mice. This data can then be used to extrapolate whether or not they have the same effect in human genetics. Purpose and Hypothesis
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5/5/11 Purpose and Hypothesis Hypothesis: CTG trinucleotide repeats are the cause of many genetic diseases that manifest themselves as genetic and phenotypic abnormalities. These repeats also increase in numbers in subsequent generations, resulting in more severe phenotypic manifestations as well as molecular abnormatlities.
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5/5/11
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This note was uploaded on 05/05/2011 for the course BIOL 400 taught by Professor Dr.biology during the Spring '11 term at University of Tennessee.

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4 - CTG Trinucleotide Repeat Big Jumps: Annie Hatmaker,...

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