PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome

Mol Cell Endocrinol. 2001 Oct 22:183 Suppl 1:S77-85. doi: 10.1016/s0303-7207(01)00572-x.

Abstract

Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

MeSH terms

  • Embryo Transfer
  • Female
  • Fluorescent Dyes
  • Fragile X Syndrome / genetics*
  • Humans
  • Huntington Disease / genetics*
  • Male
  • Mutation / genetics*
  • Myotonic Dystrophy / genetics*
  • Polymerase Chain Reaction / methods*
  • Pregnancy
  • Preimplantation Diagnosis*
  • Sensitivity and Specificity
  • Sperm Injections, Intracytoplasmic
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Fluorescent Dyes