ArticleJournal of medical genetics1996
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 182 citations in OpenAlex.
- Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Human genomics · 2018Article
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.PloS one · 2017Article
- Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.BioMed research international · 2015Article
- Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.Molecular genetics & genomic medicine · 2014Article
- 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
- Carrier detection in Duchenne muscular dystrophy using molecular methods.The Indian journal of medical research · 2013Article
- ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Brain : a journal of neurology · 2013Article
- Mosaic DCX deletion causes subcortical band heterotopia in males.Neurogenetics · 2012Article
- Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Journal of Korean medical science · 2012Article
- Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.Indian journal of human genetics · 2012Article
- Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.American journal of human genetics · 2010Article
- BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.European journal of human genetics : EJHG · 2009Article
- De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Nature genetics · 2009Article
- Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.American journal of human genetics · 2007Article
- Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.Journal of medical genetics · 2007Article
- FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.Journal of medical genetics · 2007Article
- Large genomic rearrangements in the CFTR gene contribute to CBAVD.BMC medical genetics · 2007Article
- A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.The Journal of molecular diagnostics : JMD · 2007Article
- Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.Human genetics · 2007Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have developed a semiautomated approach to amplify 25 exons of the dystrophin gene using two fluorescent multiplex PCR assays which detect over 98% of reported deletions and 90% of duplications causing Duchenne/Becker muscular dystrophy. The 5' multiplex detects 11 exons from the proximal deletion hotspot of the gene while the 3' multiplex detects 14 exons from the central deletion hotspot. The PCR products are accurately sized and quantified by a fluorescent DNA sequencer after only 18 cycles of amplification. The amount of product amplified from each exon in a multiplex is divided by that from each of the other exons, and this ratio is compared with those from control samples to obtain a series of dosage quotients (DQ), from which the copy number of each exon is determined. No overlap was observed between the DQ values obtained from single and double copy loci. The assays can be used to screen both affected males and at risk female relatives for a mutation. The method has been evaluated as a female carrier test by conducting a blind trial on 150 coded samples. Sixty-three deletion carriers, two duplication carriers, and 84 normal female controls were all correctly identified, showing that carrier diagnosis is possible even in families where the nature of the mutation is unknown. Additionally the analysis showed a non-pathogenic duplication involving the muscle specific promoter and exon 1. Together these two multiplex assays detect over 70% of all mutations in the dystrophin gene, greatly simplifying and partly automating molecular diagnosis in Duchenne and Becker muscular dystrophy.
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