ArticleJournal of medical genetics1992
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.
Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- When SizeBiomedicines · 2023Article
- Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.BMC medical genetics · 2016Article
- Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.Advanced biomedical research · 2014Article
- Detection limit of intragenic deletions with targeted array comparative genomic hybridization.BMC genetics · 2013Article
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Human mutation · 2009Article
- The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Journal of medical genetics · 1997Article
- Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Journal of medical genetics · 1996Article
- Investigation of muscle disease.Journal of neurology, neurosurgery, and psychiatry · 1996Review
- The scope of quantitative polymerase chain reaction assays in clinical molecular pathology.Clinical molecular pathology · 1995Article
- Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF).Journal of assisted reproduction and genetics · 1994Article
- Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families.Human genetics · 1994Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A direct, non-radioactive method of quantitative PCR amplification has been investigated for the diagnosis of deletion and duplication carriers in the dystrophin gene. The simultaneous amplification of two loci, or several loci using multiplex PCR, allows for the direct comparison of relative amounts of products from normal homozygous loci and potentially heterozygous deleted/duplicated loci. Sufficient cycles of PCR are performed to enable visual analysis or densitometric quantification of products on ethidium bromide stained gels. The method has been verified in blind trials performed on known genotypes and by showing that under the conditions used the assay remains within the exponential phase of amplification.
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Registered trials
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