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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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
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245 1 0 |a Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR 
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520 |a 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 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a Technical Report 
650 4 |a Journal Article 
650 7 |a DNA, Mitochondrial  |2 NLM 
700 1 |a Fliegel, L  |e verfasserin  |4 aut 
700 1 |a Cass, C E  |e verfasserin  |4 aut 
700 1 |a Penn, A M  |e verfasserin  |4 aut 
700 1 |a Michalak, M  |e verfasserin  |4 aut 
700 1 |a Weiner, J H  |e verfasserin  |4 aut 
700 1 |a Lemire, B D  |e verfasserin  |4 aut 
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