BIOMAT Database Logo BIOMAT Database Logo

Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR. 1994

H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
University of Alberta, Edmonton, Canada.

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.

UI MeSH Term Description Entries
D007625 Kearns-Sayre Syndrome A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

Related Publications

H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].
March 2008, Archivos de la Sociedad Espanola de Oftalmologia,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
[Quantification of proviral FIV DNA using competitive PCR].
January 1996, Schweizer Archiv fur Tierheilkunde,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Quantitative competitive (QC) PCR for quantification of porcine DNA.
February 2001, Meat science,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Quantification of cattle DNA using quantitative competitive PCR with sheep DNA as competitor.
February 2006, Molecular and cellular probes,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Competitive PCR for quantification of BM5d proviral DNA in mice with AIDS.
August 1998, Journal of clinical microbiology,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Nonradioactive characterization of low-level heteroplasmic mitochondrial DNA mutations by SSCP-PCR enrichment.
March 1996, BioTechniques,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
April 2022, PLoS genetics,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA.
January 2002, Genetics in medicine : official journal of the American College of Medical Genetics,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Detection of heteroplasmic mitochondrial DNA in single mitochondria.
December 2010, PloS one,
H Wang, and L Fliegel, and C E Cass, and A M Penn, and M Michalak, and J H Weiner, and B D Lemire
Rapid competitive PCR using melting curve analysis for DNA quantification.
December 2001, BioTechniques,
Copied contents to your clipboard!