Neuromuscular

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DNA REPEAT SEQUENCES & DISEASE

General principles
  Repeats in human genome
  Repeat types
Trinucleotide repeats
  General
  Disease associations
  Repeat types
    Type 1: Exonic
      p(CAG)n: Glutamine
      p(GCG)n: Alanine
    Type 2: Untranslated regions
      5': p(CCG)n
      3': p(CTG)n
    Type 3: Intronic
      p(AAG)n
Disorders with other repeat numbers
Muscle disorders
Neurologic Disease: Repeat expansions
CAG
CGG: FXS, FXTAS
CTG: DM-1, HDL2, SCA8, FECD3
GAA: FA
GCC: FRAXE mental retardation
GCG: OPMD
CCTG: DM-2
ATTCT: SCA10
TGGAA: SCA31
GGCCTG: SCA36
GGGGCC: c9orf72 FTD/ALS
CCCCGCCCCGCG: EPM1

Repeat Sequences: Principles 1

Repeat Sequences: Disease Associations


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1/18/2018

References

1. Human Mutation 1996;8:1-7
2. Human Molecular Genetics 1997;6:2005-2010
3. Neuron 1997;19:1147-1150
4. American Journal of Human Genetics: DNA structures 1999;64
5. American Journal of Human Genetics: CAG repeats 1999;64
6. Hum Mol Genet 2004;13:R235-R243