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

doi:10.1073/pnas.89.9.4215

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1992

Morton N E, Macpherson J N

Abstract excerpt

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 me...

Topics

Alleles
Dosage Compensation, Genetic
Female
Fragile X Syndrome
Genetics, Population
Humans
Intellectual Disability
Male

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