A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

Chen, J.D.; Hejtmancik, J. Fielding; Romeo, Giovanni; Lindlöf, Mikael; Boehm, Corinne D.; Caskey, C. Thomas; Kreß, Wolfram; Fischbeck, Kenneth H.; Dreier, Matthias; Serravalle, S.; Grimm, Tiemo; Kääriäinen, Helena; Ferrari, Maurizio; Pfendner, Ellen G; Meng, G.; Chapelle, Albert de la; Melis, Maria Paola; Müller, Bettina; Mackinlay, Antony G.; Müller, C. R.; Denton, M. J.

doi:10.1016/0888-7543(89)90322-4

Cited by 15 publications

(3 citation statements)

References 41 publications

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“…J. Reiss ers and the site of mutation, associated with indirect "gene tracking", can be neglected. This risk is not negligible even when intragenic RFLPs are employed, since recombination occurs at high frequency due both to the large size of the DMD gene and to the presence of intragenic recombination hot spots (Forrest et al 1987;Den Dunnen et al 1987;Wapenaar et al 1988;Chen et al 1989). Direct detection of deletions ensures that diagnosis in sporadic cases is simplified and that false prediction in prenatal diagnosis due to germ-line mosaicism (Bakker et al 1987;Wood and McGillivray 1988) can be excluded.…”

Section: Introductionmentioning

confidence: 94%

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

et al. 1990

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Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene. Two regions within putative deletion "hot spots" of this gene were tested, and deletions were found in 16.6% of patients. The oligonucleotide primers employed in this study initiate the amplification of exon sequences and were used to test the suitability and reliability of PCR in deletion screening and prenatal diagnosis using various numbers of cycles and artificial contamination ratios. We compared our approach with both "multiplex DNA amplification" and Southern blot analysis. A comparative evaluation of currently available techniques is presented.

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Section: Introductionmentioning

confidence: 94%

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

et al. 1990

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“…DMD patients may be present all over the world, because the dystrophin gene is highly susceptible to spontaneous mutation. 25 The prevalence of DMD in Japan, European countries, Australia, and North America has been repeatedly studied (summarized in Refs. 91 and 138).…”

Section: Distribution and Incidence Of Dmd And Scarmdmentioning

confidence: 99%

From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy

et al. 1998

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Duchenne and Becker muscular dystrophies are collectively termed dystrophinopathy. Dystrophinopathy and severe childhood autosomal recessive muscular dystrophy (SCARMD) are clinically very similar and had not been distinguished in the early 20th century. SCARMD was first classified separately from dystrophinopathy due to differences in the mode of inheritance. Studies performed several years ago clarified some immunohistochemical and genetic characteristics of SCARMD, but many remained to be clarified. In 1994, the sarcoglycan complex was discovered among dystrophin-associated proteins. Subsequently, on the basis of our immunohistochemical findings which indicated that all components of the sarcoglycan complex are absent in SCARMD muscles, and the previous genetic findings, we proposed that a mutation of any one of the sarcoglycan genes leads to SCARMD. This hypothesis explained and predicted various characteristics of SCARMD at the molecular level, most of which have been verified by subsequent discoveries in our own as well as various other laboratories. SCARMD is now called sarcoglycanopathy, which is caused by a defect of any one of four different sarcoglycan genes, and thus far mutations in sarcoglycan genes have been documented in the SCARMD patients. In this review, the evolution of the concept of sarcoglycanopathy separate from that of dystrophinopathy is explained by comparing studies on these diseases.

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“…There are at last two "hot spots" of recombination, one at the 5" end and the other at a more central region of this gene (Chen et al 1989;Abbs et al 1991). The distribution of recombination events resembles the distribution of deletion breakpoints observed in Duchenne and Becker muscular dystrophy (DMD/ BMD) patients and it has been proposed that similar predisposing factors or mechanisms may be responsible for the generation of both recombination and deletions (Abbs et al 1990;Oudet et al 1992).…”

Section: Introductionmentioning

confidence: 99%

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

et al. 1995

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A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether "hot spots" of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of recombination between markers STR44 and STR50; otherwise, the distribution of recombination events in other parts of the gene is largely in agreement with previously published data on Centre d'Etude du Polymorphisme Humaine families. We therefore propose that recombination frequencies and the correlation between recombination and deletion "hot spots" should be evaluated on DMD/BMD families exclusively.

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A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

Cited by 15 publications

References 41 publications

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

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