Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

Forrest, Susan M.; Cross, Gareth; Flint, T; Speer, Astrid; Robson, Kathryn; Davies, Kay E.

doi:10.1016/0888-7543(88)90091-2

Cited by 162 publications

(66 citation statements)

References 27 publications

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“…That value was very similar to 30-60~ values recently reported by other laboratories (Koenig et al, 1987;Burghes et al, 1987;Forrest et al, 1987Forrest et al, , 1988Hart et aL, 1989), although the value in DMD was lower than the expected one.…”

Section: Discussionsupporting

confidence: 91%

“…And there have been many reports as for DNA deletions of Caucasian DMD and BMD patients, and no simple correlation between the deletion size or location and the clinical severity of the disease has been observed (Malhotra et al, 1988;Hart et al, 1989;Lindl6f et al, 1989;Baumbach et al, 1989). One possible explanation for phenotypic difference in BMD and DMD has been reported to depend on whether or not the translational reading frame is maintained and some functional protein is produced (Monaco et al, 1988;Forrest et al, 1988), and this theory was proved to be true of 92~ of Caucasian DMD and BMD patients (Koenig et al, 1989). But in some BMD patients, the deletions disrupted the translational reading frame, indicating that other factors, which compensate for the frame-shift mutation should exist (Malhotra et al, 1988;Baumbach et aL, 1989).…”

Section: Introductionmentioning

confidence: 99%

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Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy

et al. 1990

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Summary Thirty-eight unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been investigated with the DMD eDNA probes. The 14-kb DMD eDNA was subdivided into 6 subclones and HindlIl-digested DNAs were analyzed by Southern blotting. Out of 38 unrelated patients, 14 showed a deletion of one or several of the exon-containing HindlII fragments (36.8 ~). These corresponded to 50 ~o (9/18) of BMD patients and 25 ~ (5/20) of DMD patients, and the position and extent of deletions were mapped and proved to be more heterogeneous in DMD than in BMD. Both ends of deletions detected in probe 1-2a were common to all six BMD patients without the maintenance of reading frame of messenger RNA, and 5' ends of deletions in probe 5b-7 were also common but maintained in frame in three BMD patients. The phenotypic-specific deletion in Japanese BMD patients has existed in the 5' end of the DMD gene, although its apparently similar deletion produced a wide range of clinical courses (BMD phenotype). There was no tight correlation between clinical severity and presence or absence of deletion in DMD or BMD.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy

et al. 1990

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“…Southern hybridization with cDNA probes was initially used to analyze deletion/duplication mutations (Koenig et al 1987;Baumbach et al 1989). This allowed analysis of the entire coding region of the gene, and two deletion hot spots were localized to the proximal region of the gene extending from exons 1 to 19, and to the central region extending from exons 44 to 60 (Koenig et al 1987;Forrest et al 1988). Because Southern hybridization was a laborious and time-consuming technique requiring the use Abstract The frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam.…”

Section: Introductionmentioning

confidence: 99%

Comparative study on deletions of the dystrophin gene in three Asian populations

et al. 2002

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“…DMD/BMD are caused by frame-shift deletions, duplications or nonsense variations in the dystrophin gene; deletions of one or more exons account for 55-65% of cases of DMD and BMD (Forrest et al, 1988;Den Dunnen et al, 1989). A Multiplex PCR that amplify the most commonly deleted exons, is able to detect about 98% of deletions in patients with DMD/BMD (Chamberlain et al, 1988;Chamberlain et al, 1990;Beggs et al, 1991) by agarose gel electrophoresis.…”

Section: Methods Suggested To Lmicsmentioning

confidence: 99%

Genetic tests for low- and middle-income countries: a literature review

Maltese¹,

Poplavskaia

Malyutkina

et al. 2017

Genet. Mol. Res.

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ABSTRACT. The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of lowor middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.

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Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

Cited by 162 publications

References 27 publications

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy

Comparative study on deletions of the dystrophin gene in three Asian populations

Genetic tests for low- and middle-income countries: a literature review

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