Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

Abstract excerpt

Fragile-X syndrome is a major cause of mental retardation in humans. The X-inactivation imprinting model accounts for the unusual pattern of inheritance and expression of this syndrome. According to this model, the fragile-X mutation creates a local block to the attempted reactivation of the mutant X chromosome prior to oogenesis. This local block results in an "imprinted" fragile-X chromosome that is deleterious...

Topics

• Female
• Fragile X Syndrome
• Heterozygote
• Humans
• Male
• Mothers
• Mutation
• Pedigree
• Polymorphism, Restriction Fragment Length