Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

Passos‐Bueno, Maria Rita; Rapaport, David; Love, Donald R.; Flint, T; Bortolini, Eliete Rabbi; Zatz, Mayana; Davies, Kay E.

doi:10.1136/jmg.27.3.145

Cited by 35 publications

(13 citation statements)

References 26 publications

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“…Although our pedigree data were incomplete for some families, we did not observe a higher frequency of deletions in sporadic (47%) compared with familial (57%) DMD (Table 1), in contrast to previous studies (Passos Bueno et al 1990). In BMD, the frequency of deletions was very high in all the groups of pedigrees, as previously reported (Bushby et al 1993).…”

Section: Deletion Analysiscontrasting

confidence: 56%

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Tuffery¹,

Chambert²,

Bareil³

et al. 1998

Human Genetics

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Data from 6 years of experience in molecular diagnosis of Duchenne (DMD) and Becker (BMD) muscular dystrophy in Southern France are reported. DMD and BMD patients have been extensively analyzed for deletions and for point mutations in the dystrophin gene. By scanning the whole coding sequence as reverse-transcribed from lymphocytes or muscular RNA by the protein truncation test, we have reached a minimum of an 86% detection rate for point mutations responsible for DMD; these mutations consist of nonsense, frameshifting, and splicing mutations. Four of 12 small alterations identified in our sample are novel and described in this study. We also present an improved protocol for the automated detection of fluorescently labeled duplex polymerase chain reactions of six known intragenic microsatellites (Dys II, TG 15, STRs 44, 45, 49, and 50). Accurate sizing of the alleles at each locus was performed, and we elucidated the sequence of several repeat units. Allele frequencies at each of the six microsatellite loci and at one restriction fragment length polymorphism site (intron 16/TaqI) were defined in a sample of normal, DMD, and BMD X chromosomes from Southern France. The determination of the grandparental origin of either deletions or point mutations revealed differences depending on the type of the mutation, with most of the deletions occurring in oogenesis and most of the point mutations occurring in spermatogenesis.

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Section: Deletion Analysiscontrasting

confidence: 56%

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Tuffery¹,

Chambert²,

Bareil³

et al. 1998

Human Genetics

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“…Very few discontinuous deletions have been reported so far.2' 22 A small increase was noted in the percentage of detectable deletions in isolated rather than familial cases but not to the extent reported by others.22 However, while this is true for the Duchenne cases the opposite was observed for the Becker cases and this is in contradiction to the above report. Moreover, our data do not support the hypothesis that proximal and distal deletions occur equally in familial cases23 and we observed that in isolated cases the ratio is much higher than the reported one.…”

Section: Discussionmentioning

confidence: 68%

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Florentin

Mavrou

Kekou

et al. 1995

Journal of Medical Genetics

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“…16 The probes consisted of the following: a cDNA probe Cf56a for dystrophin, 24 a cDNA probe for human dysferlin corresponding to nucleotides 2154 to 2903 (GenBank accession number NM_003494), and a cDNA probe for caveolin-3 corresponding to nucleotides 1 to 1214 (GenBank accession number BC024383). Hybridizations were performed in a solution consisting of 50% formamide, 7% SDS, 0.25 mol/L NaHPO 4 , 0.25 mol/L NaCl, and 1 mmol/L ethylenediaminetetraacetic acid with ZetaProbe nylon membrane (Bio-Rad Laboratories, Hercules, CA) buffers for 18 to 24 hours at 44°C.…”

Section: Northern Blot Analysismentioning

confidence: 99%

Simultaneous Dystrophin and Dysferlin Deficiencies Associated with High-Level Expression of the Coxsackie and Adenovirus Receptor in Transgenic Mice

Shaw

Larochelle

Dudley

et al. 2006

The American Journal of Pathology

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The Coxsackie and adenovirus receptor (CAR) , a cell adhesion molecule of the immunoglobulin superfamily , is usually confined to the sarcolemma at the neuromuscular junction in mature skeletal muscle fibers. Previously , we reported that adenovirusmediated gene transfer is greatly facilitated in hemizygous transgenic mice with extrasynaptic CAR expression driven by a muscle-specific promoter. However , in the present study , when these mice were bred to homozygosity , they developed a severe myopathic phenotype and died prematurely. Large numbers of necrotic and regenerating fibers were present in the skeletal muscle of the homozygous CAR transgenics. The myopathy was further characterized by increased levels of caveolin-3 and ␤-dystroglycan and decreased levels of dystrophin , dysferlin , and neuronal nitric-oxide synthase. Even the hemizygotes manifested a subtle phenotype , displaying deficits in isometric force generation and perturbed mitogen-activated protein kinase (MAPK-erk1/2) activation during contraction. There are few naturally occurring or engineered mouse lines showing as severe a skeletal myopathy as observed with ectopic expression of CAR in the homozygotes. Taken together , these findings suggest that substantial overexpression of CAR may lead to physiological dysfunction by disturbing sarcolemmal integrity (through dystrophin deficiency) , impairing sarcolemmal repair (through dysferlin deficiency) , and interfering with normal signaling (through alterations in caveolin-3 and neuronal nitric-oxide synthase levels). (Am J Pathol

show abstract

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

Cited by 35 publications

References 26 publications

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Simultaneous Dystrophin and Dysferlin Deficiencies Associated with High-Level Expression of the Coxsackie and Adenovirus Receptor in Transgenic Mice

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