Strom C M, Rechitsky S, Wolf G, Verlinsky Y
Reproductive Genetics Institute, Illinois Masonic Medical Center, Chicago 60657.
J Assist Reprod Genet. 1994 Feb;11(2):55-62. doi: 10.1007/BF02215989.
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 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.
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.
我们研究了聚合酶链反应（PCR）对单细胞进行基因分型分析用于植入前基因分析的可靠性。
我们对130个囊性纤维化跨膜传导调节因子（CFTR）基因中存在Δ-F508突变的杂合子单皮肤成纤维细胞以及来自一名因子VIII基因XbaI多态性位点杂合子个体的73个单皮肤成纤维细胞进行了盲法分析。
分别有116个细胞和52个细胞扩增成功，除1例（CFTR分析）外，所有样本的两个等位基因均被扩增。诊断错误发生率为203次分析中有1次，即0.0043。我们得出结论，PCR是一种用于植入前基因分析确定单细胞基因型的可靠方法。
