Literature DB >> 3806637

The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.

K Hart, C Cole, A Walker, S Hodgson, L Johnson, V Dubowitz, P Ray, R Worton, M Bobrow.   

Abstract

We have probed the DNA of 156 Duchenne muscular dystrophy (DMD) patients, representing 140 kindreds, with cloned DNA sequences derived from Xp21 and known to show deletions in some DMD patients. Sixteen cases showed a deletion, as defined by lack of hybridisation to one or more of the four probes used. However, two of these cases were brothers, so 15 independent deletions (10.7%) are represented. The deletion map is compatible with the suggested order for the sites of the probes used in the study, that is, telomere----pERT87.15----pERT87.8----pERT87.1----pX J1.1----754----centromere. Further mapping of these deletions and characterisation of the deletion breakpoints should facilitate more accurate molecular localisation of the gene or genes which, when mutated, are responsible for causing DMD.

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Year:  1986        PMID: 3806637      PMCID: PMC1049832          DOI: 10.1136/jmg.23.6.516

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  17 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

Review 2.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

4.  Detection and sequence of mutations in the factor VIII gene of haemophiliacs.

Authors:  J Gitschier; W I Wood; E G Tuddenham; M A Shuman; T M Goralka; E Y Chen; R M Lawn
Journal:  Nature       Date:  1985 May 30-Jun 5       Impact factor: 49.962

5.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors:  L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

6.  Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors:  T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal:  Nature       Date:  1984 Aug 2-8       Impact factor: 49.962

7.  Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.

Authors:  R G Worton; C Duff; J E Sylvester; R D Schmickel; H F Willard
Journal:  Science       Date:  1984-06-29       Impact factor: 47.728

8.  Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

Authors:  F Giannelli; K H Choo; D J Rees; Y Boyd; C R Rizza; G G Brownlee
Journal:  Nature       Date:  1983 May 12-18       Impact factor: 49.962

9.  Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

Authors:  C Verellen-Dumoulin; M Freund; R De Meyer; C Laterre; J Frédéric; M W Thompson; V D Markovic; R G Worton
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

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  10 in total

1.  Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8.

Authors:  Y P Mao; M Cremer
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

2.  DNA deletions in mild and severe Becker muscular dystrophy.

Authors:  K A Hart; S Hodgson; A Walker; C G Cole; L Johnson; V Dubowitz; M Bobrow
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

3.  A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?

Authors:  K A Hart; A P Monaco; L M Kunkel; M Bobrow
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

Review 4.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

5.  Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.

Authors:  K E Davies; T J Smith; S Bundey; A P Read; T Flint; M Bell; A Speer
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

Review 6.  Molecular analysis of muscular dystrophy.

Authors:  K E Davies; S J Kenwrick; M N Patterson; T J Smith; S M Forrest; H R Dorkins; G S Cross; S B England
Journal:  J Muscle Res Cell Motil       Date:  1988-02       Impact factor: 2.698

7.  Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

Authors:  E F Gillard; J S Chamberlain; E G Murphy; C L Duff; B Smith; A H Burghes; M W Thompson; J Sutherland; I Oss; S E Bodrug
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

8.  Familial deletion in Becker type muscular dystrophy within the pXJ region.

Authors:  S Liechti-Gallati; S Braga; H Hirsiger; H Moser
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

9.  The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.

Authors:  S Hodgson; A Walker; C Cole; K Hart; L Johnson; J Heckmatt; V Dubowitz; M Bobrow
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

10.  Partial gene duplication in Duchenne and Becker muscular dystrophies.

Authors:  X Y Hu; A H Burghes; P N Ray; M W Thompson; E G Murphy; R G Worton
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

  10 in total

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