Length of uninterrupted CGG repeats determines instability in the FMR1 gene

@article{Eichler1994LengthOU,
  title={Length of uninterrupted CGG repeats determines instability in the FMR1 gene},
  author={Evan E. Eichler and J. J. Holden and Bradley W. Popovich and Allan L. Reiss and Karen Snow and Stephen N. Thibodeau and C Sue Richards and Patricia A. Ward and David L. G. Nelson},
  journal={Nature Genetics},
  year={1994},
  volume={8},
  pages={88-94}
}
Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3′ end. Variation in the length of the repeat appears polar. Alleles containing between 34 and 55 repeats, with documented unstable transmissions, were shown to have lost one or both AGG interruptions. These comparisons define an… CONTINUE READING
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