Detection of Mitochondrial DNA Mutations 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 ...

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

Detection of mutations in GC-rich DNA by bisulphite denaturing gradient gel electrophoresis.

Denaturing gradient gel electrophoresis (DGGE) in combination with PCR and 'GC-clamping' has proven highly efficient as a method for detection of DNA sequence differences. Due to strand dissociation phenomena, however, its use has been limited to the analysis of sequences with a relatively low content of GC pairs. This paper describes how treatment of template DNA with sodium bisulphite drastic...

Rapid Detection of FGFR Mutations in Syndromic Cra- niosynostosis by Temporal Temperature Gradient Gel

niosynostosis by Temporal Temperature Gradient Gel Electrophoresis, Tomoyasu Higashimoto, Shoji Yano, Masamichi Ito, Noreen C. Clark-Sheehan, Linda Cowan, and Richard G. Boles (Divisions of 1 Medical Genetics and 2 Plastic Surgery, Childrens Hospital Los Angeles, Los Angeles, CA 90027; Departments of 3 Pediatrics, 4 Obstetrics and Gynecology, and 5 Surgery, and 6 Institute for Genetic Medicine,...

extremal region detection guided by maxima of gradient magnitude

a problem of computer vision applications is to detect regions of interest under dif- ferent imaging conditions. the state-of-the-art maximally stable extremal regions (mser) detects affine covariant regions by applying all possible thresholds on the input image, and through three main steps including: 1) making a component tree of extremal regions’ evolution (enumeration), 2) obtaining region ...