Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR.
1994; National Institutes of Health; Volume: 17; Issue: 1 Linguagem: Inglês
Autores
H. Wang, Larry Fliegel, Carol E. Cass, Andrew M. Penn, Michał Michalak, Joël H. Weiner, Bernard D. Lemire,
Tópico(s)Metabolism and Genetic Disorders
ResumoKearns-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.
Referência(s)