Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.

@article{Chong1997ContributionOD,
  title={Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.},
  author={Samuel S Chong and Elisabeth Almqvist and H{\aa}kan Telenius and L LaTray and Kerrie Nichol and Brooke N. Bourd{\'e}lat-Parks and Yigal Paul Goldberg and Bassem R. Haddad and Frances Richards and David Sillence and Cheryl Rochman Greenberg and E. Oliver H. Ives and Ger van den Engh and Mark R. Hughes and Michael R. Hayden},
  journal={Human molecular genetics},
  year={1997},
  volume={6 2},
  pages={301-9}
}
New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAs in families with sporadic HD (IANM) and IAs ascertained from the general population (IAGP) by analyzing 1161 single sperm from three persons. We show that IANM are more unstable than IAGP with identical size and… CONTINUE READING