Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols

Mol Hum Reprod. 1996 Mar;2(3):209-12. doi: 10.1093/molehr/2.3.209.

Abstract

Primer extension preamplification (PEP) was first described as a method for whole genome amplification, starting from a single cell, originally a spermatozoon, in order to perform genetic recombination studies. Its usefulness for preimplantation diagnosis was shown soon after; the only drawback was the length of the procedure (> 14 h). We have developed a shorter PEP protocol for single human blastomeres, enabling us to examine several genetic loci of interest in human genetic diseases with a good amplification efficiency.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blastomeres / physiology*
  • Cystic Fibrosis / genetics
  • DNA Primers*
  • Embryonic Development*
  • Female
  • Fertilization in Vitro / methods
  • Humans
  • Polymerase Chain Reaction / methods*
  • Pregnancy
  • Tay-Sachs Disease / genetics

Substances

  • DNA Primers