Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR

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 mitochondr...

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Bibliographische Detailangaben
Veröffentlicht in:BioTechniques. - 1988. - 17(1994), 1 vom: 01. Juli, Seite 76-8, 80, 82
1. Verfasser: Wang, H (VerfasserIn)
Weitere Verfasser: Fliegel, L, Cass, C E, Penn, A M, Michalak, M, Weiner, J H, Lemire, B D
Format: Aufsatz
Sprache:English
Veröffentlicht: 1994
Zugriff auf das übergeordnete Werk:BioTechniques
Schlagworte:Research Support, Non-U.S. Gov't Technical Report Journal Article DNA, Mitochondrial
Beschreibung
Zusammenfassung: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
Beschreibung:Date Completed 07.12.1994
Date Revised 19.11.2009
published: Print
Citation Status MEDLINE
ISSN:0736-6205