Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

  title={Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal},
  author={M. Lima and M. C. Costa and R. Montiel and A. Ferro and C. Santos and C. Silva and C. Bettencourt and A. Sousa and J. Sequeiros and P. Coutinho and P. Maciel},
  journal={Human Heredity},
  pages={156 - 163}
  • M. Lima, M. C. Costa, +8 authors P. Maciel
  • Published 2005
  • Biology, Medicine
  • Human Heredity
  • Objective: To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size and the epidemiological representation of MJD were tested. Results: The… CONTINUE READING
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