Detection and Quantification of Heteroplasmic Mutant Mitochondrial DNA by Real-Time Amplification Refractory Mutation System Quantitative PCR Analysis: A Single-Step Approach

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach.

BACKGROUND The A3243G mitochondrial tRNA leu(UUR) point mutation causes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the most common mitochondrial DNA (mtDNA) disorder, and is also found in patients with maternally inherited diabetes and deafness syndrome (MIDD). To correlate disease manifestation with mutation loads, it is necessary to mea...

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.

Detection and quantification of minority HIV isolates harbouring the D30N mutation by real-time PCR amplification.

OBJECTIVES HIV drug resistance is a major concern as the emergence of resistant strains of virus results in failure of first-line therapies with an associated increase in the cost of subsequent regimens. Genotypic resistance is currently assessed by direct sequencing and cannot detect resistant species below 20%. Real-time PCR amplification was assessed for its ability to detect the signature m...

Determination of RhD zygosity: comparison of a double amplification refractory mutation system approach and a multiplex real-time quantitative PCR approach.

BACKGROUND Rh isoimmunization and hemolytic disease of the newborn still occur despite the availability of Rh immunoglobulin. For the prenatal investigation of sensitized RhD-negative pregnant women, determination of the zygosity of the RhD-positive father has important implications. The currently available molecular methods for RhD zygosity assessment, in general, are technically demanding and...

Quantitative detection of Tropheryma whipplei DNA by real-time PCR.

Over the past decade, PCR-based methodologies have been introduced to complement or even replace histopathologic study of biopsy specimens for the diagnosis of Whipple’s disease (12). However, positive PCR results have been reported on testing small-bowel and saliva specimens from asymptomatic patients (3, 4, 11). Although these results have not been independently confirmed (8), they have nonet...