title: Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols.
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.
authors.affiliation: Centre for Medical Genetics, Dutch-speaking Brussels Free University, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Sermon
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: H
authors.initials: H
authors.lastname: Joris
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D001757:Blastomeres / Q000502:physiology*; D003550:Cystic Fibrosis / Q000235:genetics; D017931:DNA Primers; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D013661:Tay-Sachs Disease / Q000235:genetics
chemical_list: D017931:DNA Primers