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3 expansion-genetics
| Question | Answer |
|---|---|
| Huntington dx | CAG expansion, AD disease, huntingtin gene undergoes deacetylation of histones--> this prevents the transcrition of certain genes that code for neurotrophic factors--> neuronal cell death. |
| Myotonic dystrophy | CTG, DMPK gene, AD |
| Fragile X | CGG expansion, FMR1 gene-- hypermethylation--> â¬ï¸ expansion, X-linked dominant |
| Friedreich ataxia | GAA expansion, AR, frataxin protein(iron binding protein) |