Striking founder effect for the fragile X syndrome in Finland.

@article{Oudet1993StrikingFE,
  title={Striking founder effect for the fragile X syndrome in Finland.},
  author={Claudine L. Oudet and Harriet von Koskull and A. M. Nordstr{\"o}m and Maarit Peippo and J. L. Mandel},
  journal={European journal of human genetics : EJHG},
  year={1993},
  volume={1 3},
  pages={181-9}
}
The fragile X mental retardation syndrome is caused by the expansion of an unstable CGG repeat in a 5' exon of the FMR1 gene. Significant linkage disequilibrium between this mutation and flanking microsatellite markers has been observed previously in Caucasian populations, a very unusual finding for an X-linked disease which severely impairs reproduction fitness in affected males. This reflects the multistep process at the origin of the full mutation. We have analyzed the FRAXAC2 and DXS548… CONTINUE READING

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