PURPOSE: We investigated the reliability of polymerase chain reaction (PCR) genotype analyses performed on single cells for the purposes of preimplantation genetic analysis. METHODS: We performed blind analysis of 130 single skin fibroblasts heterozygous for the delta-F508 mutation in the cystic fibrosis transmembrane regulator (CFTR) gene and 73 single skin fibroblasts from an individual heterozygous for the XbaI polymorphic site of the Factor VIII gene. RESULTS: 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.
PURPOSE: We investigated the reliability of polymerase chain reaction (PCR) genotype analyses performed on single cells for the purposes of preimplantation genetic analysis. METHODS: We performed blind analysis of 130 single skin fibroblasts heterozygous for the delta-F508 mutation in the cystic fibrosis transmembrane regulator (CFTR) gene and 73 single skin fibroblasts from an individual heterozygous for the XbaI polymorphic site of the Factor VIII gene. RESULTS: 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.
Authors: Y Verlinsky; S Rechitsky; S Evsikov; M White; J Cieslak; A Lifchez; J Valle; J Moise; C M Strom Journal: Prenat Diagn Date: 1992-02 Impact factor: 3.050
Authors: C M Strom; Y Verlinsky; S Milayeva; S Evsikov; J Cieslak; A Lifchez; J Valle; J Moise; N Ginsberg; M Applebaum Journal: Lancet Date: 1990-08-04 Impact factor: 79.321