Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.

@article{Takiyama1995EvidenceFI,
  title={Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.},
  author={Y Takiyama and Shuichi Igarashi and Ekaterina A. Rogaeva and Kotaro Endo and Evgeni I Rogaev and Hiroyasu Tanaka and Robin Sherrington and Kazuhiro Sanpei and Yan Liang and Masaaki Saito},
  journal={Human molecular genetics},
  year={1995},
  volume={4 7},
  pages={1137-46}
}
The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado-Joseph disease (MJD). Our data provide five novel observations. First, MJD is associated with expansion fo the array from the normal range of 14-37 repeats to 68-84 repeats in most Japanese and Caucasian subjects, but no subjects were observed with expansions… CONTINUE READING