ArticleAmerican journal of human genetics1992
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 61 citations in OpenAlex.
- Microsatellite Length Scoring by Single Molecule Real Time Sequencing - Effects of Sequence Structure and PCR Regime.PloS one · 2016Article
- Genotyping of Polymorphic Microsatellite Markers Linked to RB1 Locus in Iranian Population.Avicenna journal of medical biotechnology · 2012Article
- The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Journal of medical genetics · 1997Article
- Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.American journal of human genetics · 1997Article
- RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.The Journal of clinical investigation · 1997Article
- De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).Journal of medical genetics · 1997Article
- Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.Journal of medical genetics · 1996Article
- Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Journal of medical genetics · 1996Article
- Toward fully automated genotyping: genotyping microsatellite markers by deconvolution.American journal of human genetics · 1995Article
- Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods.Human genetics · 1995Article
- Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy.American journal of human genetics · 1994Article
- Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.American journal of human genetics · 1994Article
- The validation of short tandem repeat (STR) loci for use in forensic casework.International journal of legal medicine · 1994Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
We have developed a fast and accurate PCR-based linkage and carrier detection protocol for families of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients with or without detectable deletions of the dystrophin gene, using fluorescent PCR products analyzed on an automated sequencer. When a deletion is found in the affected male DMD/BMD patient by standard multiplex PCR, fluorescently labeled primers specific for the deleted and nondeleted exon(s) are used to amplify the DNA of at-risk female relatives by using multiplex PCR at low cycle number (20 cycles). The products are then quantitatively analyzed on an automatic sequencer to determine whether they are heterozygous for the deletion and thus are carriers. As a confirmation of the deletion data, and in cases in which a deletion is not found in the proband, fluorescent multiplex PCR linkage is done by using four previously described polymorphic dinucleotide sequences. The four (CA)n repeats are located throughout the dystrophin gene, making the analysis highly informative and accurate. We present the successful application of this protocol in families who proved refractory to more traditional analyses.
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Identifiers
1415217PMC1682805W1533775678What OpenQuestion holds
Registered trials
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.