Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis
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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 wordspolymerase chain reaction genetic diagnosis preimplantation single-locus genetic disease
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- 1.Coutelle C, Williams C, Handyside A, Hardy K, Winston R, Williamson R: Genetic analysis of DNA from single human oocytes: A model for preimplantation diagnosis of cystic fibrosis. Br Med J 1989;299:22–24Google Scholar
- 2.Faloona F, Weiss S, Ferre F, Mullis K: Presented at the Sixth International Conference on AIDS, San Francisco, CA, June 20–24, 1990Google Scholar
- 16.Verlinsky Y, Rechitsky S, Evsikov S, White M, Cieslak J, Lifchez A, Valle J, Moise J, Strom CM: Preconception and preimplantation diagnosis for cystic fibrosis. Pren Diag 1992;12:103–110Google Scholar