Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses.

@article{Monckton1995SomaticMG,
  title={Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses.},
  author={Darren G Monckton and L. J. C. Wong and Tetsuo Ashizawa and C. Thomas Caskey},
  journal={Human molecular genetics},
  year={1995},
  volume={4 1},
  pages={1-8}
}
In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool polymerase chain reaction (PCR) in a detailed quantitative analysis of repeat length variation. We demonstrate that the heterogeneous smear of CTG repeats observed in DM patients using standard analyses is comprised of multiple unresolved bands that may be dissected into discrete length alleles derived from single cells using single molecule… CONTINUE READING

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