Parfait B, Rustin P, Munnich A, Rötig A
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.
Biochem Biophys Res Commun. 1998 Jun 9;247(1):57-9. doi: 10.1006/bbrc.1998.8666.
The potential co-amplification of actual mtDNA and nucleus-embedded mtDNA sequences was studied for the mtDNA domains encompassing the major disease-causing mtDNA mutations. By using two different cell lines devoid of mtDNA (rho degree cell lines), it is shown that nucleus-embedded mtDNA sequences readily co-amplified with most of the mtDNA domains encompassing disease-causing mtDNA mutations. The selection of mtDNA primers for specificity on rho degree cells constitutes a simple procedure to avoid such co-amplification. It appears mandatory prior to quantify mtDNA mutations, especially when delivering prenatal diagnosis or predictive genetic advise.
针对包含主要致病线粒体DNA（mtDNA）突变的mtDNA结构域，研究了实际mtDNA与细胞核嵌入mtDNA序列的潜在共扩增情况。通过使用两种不同的无mtDNA细胞系（ρ⁰细胞系），结果表明，细胞核嵌入的mtDNA序列很容易与包含致病mtDNA突变的大多数mtDNA结构域发生共扩增。选择对ρ⁰细胞具有特异性的mtDNA引物是避免这种共扩增的简单方法。在对mtDNA突变进行定量之前，这似乎是必不可少的，尤其是在进行产前诊断或提供预测性遗传建议时。
