Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium.
Mitochondrion. 2011 Jul;11(4):626-9. doi: 10.1016/j.mito.2011.03.123. Epub 2011 Apr 6.
Diseases associated with point mutations in the mitochondrial DNA (mtDNA) are maternally inherited. We evaluated whether pre-implantation genetic diagnosis, based on polar body mutation load detection could be used to distinguish healthy from affected oocytes. Restriction Fragment Length Polymorphism (RFLP) analysis was used and validated, to determine A3243G tRNA(Leu(UUR)) mutation load in metaphase II oocytes and their respective first polar bodies. The results of this study show for the first time that the mutation load measured in the polar bodies correlates well with the mutation load in the respective oocytes. Therefore, human polar body analysis can be used as diagnostic tool to prevent transmission of mitochondrial disorders.
与线粒体 DNA（mtDNA）点突变相关的疾病呈母系遗传。我们评估了基于极体突变负荷检测的胚胎植入前遗传学诊断是否可用于区分健康和受影响的卵母细胞。我们使用并验证了限制片段长度多态性（RFLP）分析，以确定中期 II 卵母细胞及其各自第一极体中的 A3243G tRNA（Leu（UUR））突变负荷。这项研究的结果首次表明，极体中测量的突变负荷与相应卵母细胞中的突变负荷密切相关。因此，人类极体分析可作为预防线粒体疾病传播的诊断工具。
