Wang H, Fliegel L, Cass C E, Penn A M, Michalak M, Weiner J H, Lemire B D
University of Alberta, Edmonton, Canada.
Biotechniques. 1994 Jul;17(1):76-8, 80, 82.
Kearns-Sayre syndrome (KSS) is a disease with severe clinical symptoms that often arises from a mitochondrial DNA deletion of 4977 bp. Quantification of defective mitochondrial DNA is important since the severity of symptoms in KSS is thought to be related to increased content of abnormal mitochondrial DNA. We developed a rapid, quantitative and competitive PCR assay to measure both wild-type and mutant forms of mitochondrial DNA in cells from KSS patients. The assay can accurately measure absolute numbers of mitochondrial DNA per cell by normalizing to a single copy nuclear gene.
卡恩斯-塞尔综合征（KSS）是一种具有严重临床症状的疾病，通常由4977 bp的线粒体DNA缺失引起。缺陷型线粒体DNA的定量分析很重要，因为KSS症状的严重程度被认为与异常线粒体DNA含量的增加有关。我们开发了一种快速、定量且具有竞争性的PCR检测方法，用于测量KSS患者细胞中线粒体DNA的野生型和突变型形式。该检测方法通过与单拷贝核基因进行标准化，可以准确测量每个细胞中线粒体DNA的绝对数量。
