ArticleThe American journal of pathology1998
Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.
Article in The American journal of pathology, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 155 citations in OpenAlex.
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- Excised radicle tips as a source of genomic DNA for PCR-based genotyping and melting curve analysis in cotton.Journal of biosciences · 2013Article
- Multiplex fluorescence melting curve analysis for mutation detection with dual-labeled, self-quenched probes.PloS one · 2011Article
- Automated DNA extraction, quantification, dilution, and PCR preparation for genotyping by high-resolution melting.Journal of biomolecular techniques : JBT · 2010Article
- Basic principles of fluorescence and energy transfer applied to real-time PCR.Molecular biotechnology · 2010Review
- LightCycler technology in molecular diagnostics.The Journal of molecular diagnostics : JMD · 2009Article
- Rapid genotyping of tumor necrosis factor alpha with fluorogenic hybridization probes on the LightCycler.Clinical and experimental medicine · 2008Article
- Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting.The Journal of molecular diagnostics : JMD · 2007Article
- Robustness of single-base extension against mismatches at the site of primer attachment in a clinical assay.Journal of molecular medicine (Berlin, Germany) · 2007Article
- Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes.The Journal of molecular diagnostics : JMD · 2006Article
- Detection of rare mutant K-ras DNA in a single-tube reaction using peptide nucleic acid as both PCR clamp and sensor probe.Nucleic acids research · 2006Article
- Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.The Journal of molecular diagnostics : JMD · 2004Article
- Real-time PCR genotyping using displacing probes.Nucleic acids research · 2004Article
- Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.The Journal of molecular diagnostics : JMD · 2003Article
- Genotyping of the MTHFR gene polymorphism, C677T in patients with leukemia by melting curve analysis.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2003Article
- A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2003Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Multiplex polymerase chain reaction amplification and genotyping by fluorescent probe melting temperature (Tm) was used to simultaneously detect multiple variants in the hereditary hemochromatosis gene. Homogenous real-time analysis by fluorescent melting curves has previously been used to genotype single base mismatches; however, the current method introduces a new probe design for fluorescence resonance energy transfer and demonstrates allele multiplexing by Tm for the first time. The new probe design uses a 3'-fluorescein-labeled probe and a 5'-Cy5-labeled probe that are in fluorescence energy transfer when hybridized to the same strand internal to an unlabeled primer set. Two hundred and fifty samples were genotyped for the C282Y and H63D hemochromatosis causing mutations by fluorescent melting curves. Multiplexing was performed by including two primer sets and two probe sets in a single tube. In clinically defined groups of 117 patients and 56 controls, the C282Y mutation was found in 87% (204/234) of patient chromosomes, and the relative penetrance of the H63D mutation was 2.4% of the homozygous C282Y mutation. Results were confirmed by restriction enzyme digestion and agarose gel electrophoresis. In addition, the probe covering the H63D mutation unexpectedly identified the A193T polymorphism in some samples. This method is amenable to multiplexing and has promise for scanning unknown mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.