ArticleAmerican journal of human genetics2002
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 177 citations in OpenAlex.
- Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.BMC medical genomics · 2026Article
- Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy.Clinical case reports · 2026Article
- 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
- AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects.Gene therapy · 2025Review
- Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination.Frontiers in medicine · 2025Article
- Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India.Iranian journal of child neurology · 2023Article
- Renadirsen, a Novel 2'OMeRNA/ENACurrent issues in molecular biology · 2021Article
- Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC).Iranian journal of basic medical sciences · 2021Article
- Identification of two rare mutations c.1318G>A and c.6438+2T>G in a Chinese DMD family as genetic markers.Genes & genomics · 2020Article
- Induced Fetal Human Muscle Stem Cells with High Therapeutic Potential in a Mouse Muscular Dystrophy Model.Stem cell reports · 2020Article
- Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy.Nature medicine · 2020Article
- Atherosclerosis and the Capillary Network; Pathophysiology and Potential Therapeutic Strategies.Cells · 2019Review
- Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.Journal of personalized medicine · 2019Review
- Antisense oligonucleotides for the treatment of cardiomyopathy in Duchenne muscular dystrophy.American journal of translational research · 2019Review
- Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Human genomics · 2018Article
- Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.Yonsei medical journal · 2017Article
- Eteplirsen in the treatment of Duchenne muscular dystrophy.Drug design, development and therapy · 2017Review
- Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.Journal of neuromuscular diseases · 2016Article
- Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.Journal of human genetics · 2016Article
- Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.Scientific reports · 2015Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duplications and deletions are known to cause a number of genetic disorders, yet technical difficulties and financial considerations mean that screening for these mutations, especially duplications, is often not performed. We have adapted multiplex amplifiable probe hybridization (MAPH) for the screening of the DMD gene, mutations in which cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy. MAPH involves the quantitative recovery of specifically designed probes following hybridization to immobilized genomic DNA. We have engineered probes for each of the 79 exons of the DMD gene, and we analyzed them by using a 96-capillary sequencer. We screened 24 control individuals, 102 patients, and 23 potential carriers and detected a large number of novel rearrangements, especially small, one- and two-exon duplications. A duplication of exon 2 alone was the most frequently occurring mutation identified. Our analysis indicates that duplications occur in 6% of patients with DMD. The MAPH technique as modified here is simple, quick, and accurate; furthermore, it is based on existing technology (i.e., hybridization, PCR, and electrophoresis) and should not require new equipment. Together, these features should allow easy implementation in routine diagnostic laboratories. Furthermore, the methodology should be applicable to any genetic disease, it should be easily expandable to cover >200 probes, and its characteristics should facilitate high-throughput screening.
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