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

We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, which has not been reported before in severe X linked myopathy. Most of the DMD deletions could be detected with Cf56a while all four BMD deletions were detected with Cf23a. The pattern of deletions could not be used to predict the precise clinical course of the disease and no correlation was found between the severity of the disease and the extent of the gene deletion. A higher frequency of deletions was observed in sporadic (73%) compared with familial DMD (28%) and BMD cases (33%). This result, if confirmed in a larger sample, would have important implications for genetic counselling.

[1]  A. Ossipov,et al.  Duchenne muscular dystrophy , 2004 .

[2]  M. W. Thompson,et al.  Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. , 1988, Science.

[3]  U. Francke,et al.  Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. , 1988, American journal of human genetics.

[4]  M. W. Thompson,et al.  Partial gene duplication in Duchenne and Becker muscular dystrophies. , 1988, Journal of medical genetics.

[5]  R. Waterston,et al.  Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. , 1988, The New England journal of medicine.

[6]  K. Davies,et al.  Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. , 1988, Genomics.

[7]  K. Davies,et al.  Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. , 1988, Journal of medical genetics.

[8]  K. Davies,et al.  Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. , 1987, Nucleic acids research.

[9]  K. Davies,et al.  EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY , 1987, The Lancet.

[10]  J. D. Dunnen,et al.  Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels , 1987, Nature.

[11]  K. Davies,et al.  Preferential deletion of exons in Duchenne and Becker muscular dystrophies , 1987, Nature.

[12]  M. Koenig,et al.  Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals , 1987, Cell.

[13]  L. Kunkel,et al.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy , 1986, Nature.

[14]  A. Feinberg,et al.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. , 1983, Analytical biochemistry.

[15]  K. Davies,et al.  Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. , 1983, Nucleic acids research.

[16]  J. Miller,et al.  Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history , 1983, Muscle & nerve.

[17]  M. Pembrey,et al.  Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy? , 1982, American journal of medical genetics.

[18]  M. Zatz,et al.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. , 1981, Journal of medical genetics.

[19]  G. Clarke,et al.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. , 1979, Journal of medical genetics.

[20]  R. Greenstein,et al.  AN X/AUTOSOME TRANSLOCATION IN A GIRL WITH DUCHENNE MUSCULAR DYSTROPHY (DMD): EVIDENCE FOR DMD GENE LOCALIZATION , 1977, Pediatric Research.

[21]  K. Hirschhorn,et al.  THE NUMBER OF C-BANDS OF HUMAN ISOCHROMOSOME Xqi AND THEIR REIATIONSHIP TO 45,X MOSAICISM , 1977, Pediatric Research.

[22]  L. Kunkel,et al.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[23]  E. Southern.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[24]  H. Farquhar.  EXPERIMENTS IN BINARY ARITH-METIC. , 1883, Science.

[25]  A. Monaco,et al.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. , 1988, Genomics.

[26]  U. Francke,et al.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. , 1988, American journal of human genetics.

[27]  A. Monaco,et al.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment , 1985, Nature.

[28]  M. W. Thompson,et al.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy , 1985, Nature.