Journal of Assisted Reproduction and Genetics

, Volume 11, Issue 2, pp 55–62 | Cite as

Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis

  • Charles M. Strom
  • Svetlana Rechitsky
  • George Wolf
  • Yury Verlinsky



We investigated the reliability of polymerase chain reaction (PCR) genotype analyses performed on single cells for the purposes of preimplantation genetic analysis.


We performed blind analysis of 130 single skin fibroblasts heterozygous for the Δ-F508 mutation in the cystic fibrosis transmembrane regulator (CFTR) gene and 73 single skin fibroblasts from an individual heterozygous for the Xbapolymoporphic site of the Factor VIII gene.


Amplification was successful for 116 cells and 52 cells respectively and in all but one case (a CFTR analysis) both alleles were amplified. The incidence of diagnostic error was 1 out of 203 analyses or 0.0043. We conclude that PCR is a reliable method for determining the genotype of single cells for the purposes of preimplantation genetic analysis.

Key words

polymerase chain reaction genetic diagnosis preimplantation single-locus genetic disease 


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Copyright information

© Plenum Publishing Corporation 1994

Authors and Affiliations

  • Charles M. Strom
    • 1
  • Svetlana Rechitsky
    • 1
  • George Wolf
    • 1
  • Yury Verlinsky
    • 1
  1. 1.Reproductive Genetics Institute and Department of Obstetrics and GynecologyIllinois Masonic Medical CenterChicago

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