Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation

Clin Genet. 1993 Mar;43(3):157-9. doi: 10.1111/j.1399-0004.1993.tb04462.x.

Abstract

The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age-dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Base Composition
  • Blotting, Southern
  • Child
  • DNA / analysis
  • Electrophoresis, Agar Gel
  • Female
  • Fragile X Syndrome / genetics*
  • Humans
  • Male
  • Maternal Age
  • Middle Aged
  • Mutation*
  • Polymorphism, Restriction Fragment Length

Substances

  • DNA