ArticleJournal of medical genetics1991
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.
Article in Journal of medical genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 109 citations in OpenAlex.
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.Neurogenetics · 2024Article
- Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Scientific reports · 2023Article
- DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.Circulation. Genomic and precision medicine · 2023Article
- The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.BMC research notes · 2019Article
- Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.PloS one · 2018Article
- Distribution of dystrophin gene deletions in a Chinese population.The Journal of international medical research · 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
- Deletional mutations of dystrophin gene and carrier detection in eastern India.Indian journal of pediatrics · 2009Article
- Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2007Article
- Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.Molecular biotechnology · 2007Article
- Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2004Article
- Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.American journal of human genetics · 2002Article
- 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
- Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.Human genetics · 1995Article
- The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.American journal of human genetics · 1995Article
- Becker muscular dystrophy presenting with complete heart block in the sixth decade.Journal of neurology · 1995Article
- Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.Journal of medical genetics · 1995Article
- Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.Human genetics · 1995Article
- Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.Human genetics · 1994Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Existing reactions for the multiplex PCR amplification of exons in the dystrophin gene have been modified to produce two multiplex reactions which separately cover the 5' and 3' major deletion 'hotspots' in the gene, and together detect approximately 98% of all deletions detectable by Southern cDNA hybridisation. A comparative study of 148 patients showed mistypings in both the cDNA hybridisation data (4%) and the PCR analysis (1.2%). We suggest means of circumventing the underlying problems in order to avoid mistyping and subsequent misdiagnosis, and conclude that, with appropriate precautions, multiplex PCR amplification can be the method of choice for detecting deletions in the dystrophin gene.
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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.