Quantification of mitochondrial DNA heteroplasmy by temporal temperature gradient gel electrophoresis.

Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis.

BACKGROUND A unique requirement for the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is the ability to detect heteroplasmic mtDNA mutations and to distinguish them from homoplasmic sequence variations before further testing (e.g., sequencing) is performed. We evaluated the potential utility of temporal temperature gradient gel electrophoresis (TTGE) for these purposes in patients ...

Mitochondrial DNA heteroplasmy among hairs from single individuals.

A denaturing gradient gel electrophoresis (DGGE) assay was used to detect mitochondrial DNA (mtDNA) sequence heteroplasmy in 160 hairs from each of three individuals. The HV1 and HV2 heteroplasmic positions were then identified by sequencing. In several hairs, the heteroplasmic position was not evident by sequencing and dHPLC separation of the homoduplex/heteroduplex species was carried out wit...

A High Incidence of Mitochondrial DNA Heteroplasmy in Hypervariable Region 1 in Normal Human Tissues: Implications for Forensic Casework

Mitochondrial DNA (mtDNA) sequence analysis of the hypervariable control region has been shown to be an effective tool for human identification. The high copy number and maternal mode of inheritance make mtDNA analysis particularly useful when advanced age or degradation of biological evidence prohibits the detection of nuclear DNA polymorphisms. Heteroplasmy, or the existence of subpopulations...

Using a Temperature Gradient against the Time in Polyacrylamide Gel Electrophoresis May Eliminate the Need for Stacking Gels

Background and Objectives: Making stacking gels for polyacrylamide gels in the laboratory by conventional methods is laborious and time consuming. Considering the role of temperature in polyacrylamide gels with respect to electrical resistance and viscosity, we assumed that decreasing the temperature would cause an increase in electrical resistance and viscosity.  Ultimately, a downward tempera...

Rapid analysis of mitochondrial DNA heteroplasmy in diabetes by gel-microchip electrophoresis.