Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.

Abstract

A model is developed to account for recent molecular observations. It postulates four alleles: normal (N), small rather stable insert (S), larger, unstable insert (Z), and large insert (L). The last-named allele causes the fragile-X phenotype, inactivation of the FMR1 locus by methylation, and mental impairment; the FMR1 locus (for fragile-X mental… (More)

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Cite this paper

@article{Morton1992PopulationGO, title={Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.}, author={Nicol Morton and J. N. Macpherson}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={1992}, volume={89 9}, pages={4215-7} }