06 Imprinting


  • gene expression not structure
  • different expression depending on whether from mother or father

  • normally both copies expressed
  • imprinting: one of the copy not expressed

Pathology

Prader-Willi

  • P for paternal and prader
  • maternal normally not expressed
  • loos of paternal = no functioning gene

  • angelman severe intellectual

Angelman

  • meiotic nondisjunction rarer in males