Literature DB >> 3398004

Partial gene duplication in Duchenne and Becker muscular dystrophies.

X Y Hu1, A H Burghes, P N Ray, M W Thompson, E G Murphy, R G Worton.   

Abstract

Duchenne and Becker muscular dystrophies (DMD and BMD) are progressive muscle wasting disorders with an X linked recessive mode of inheritance. We have surveyed 120 unrelated patients with DMD or BMD for gene duplications using a series of genomic probes from within the DMD/BMD gene locus. In three patients, two with DMD and one with BMD, a duplicated region within the DMD/BMD locus has been shown by Southern blot analysis and transmission densitometry. In two cases a new restriction fragment spanning the duplication junction has been visualised, indicating that the duplications are tandemly arranged. Mendelian inheritance of the duplication has been shown in two families by following the segregation of the duplication junction fragment. The three duplication cases have been analysed with a cDNA probe isolated from the DXS206 region of the DMD/BMD locus and the duplication of a specific set of exons has been found in two cases. This study shows that all three duplications are internal to the gene and confirms that such a duplication can result in a genetic disorder through the disruption of exon organisation.

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Year:  1988        PMID： 3398004      PMCID： PMC1050503          DOI： 10.1136/jmg.25.6.369

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


  26 in total

1.  Organization of the human transferrin gene: direct evidence that it originated by gene duplication.

Authors:  I Park; E Schaeffer; A Sidoli; F E Baralle; G N Cohen; M M Zakin
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

2.  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

3.  Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.

Authors:  J M Murray; K E Davies; P S Harper; L Meredith; C R Mueller; R Williamson
Journal:  Nature       Date:  1982-11-04       Impact factor: 49.962

4.  Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors:  M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

6.  Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

Authors:  J A Bartley; S Patil; S Davenport; D Goldstein; J Pickens
Journal:  J Pediatr       Date:  1986-02       Impact factor: 4.406

7.  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

8.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962

9.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       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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  26 in total

1.  Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.

Authors:  Y Hiraishi; S Kato; T Ishihara; T Takano
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

Review 2.  Improved diagnosis of Duchenne/Becker muscular dystrophy.

Authors:  A H Beggs; L M Kunkel
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

3.  Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Authors:  J T Den Dunnen; P M Grootscholten; E Bakker; L A Blonden; H B Ginjaar; M C Wapenaar; H M van Paassen; C van Broeckhoven; P L Pearson; G J van Ommen
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

4.  Prenatal diagnosis of BMD in Morocco: evolution and limits.

Authors:  Khalil Hamzi; Afaf Ben Itto; Mohammed Itri; Sellama Nadifi
Journal:  J Mol Neurosci       Date:  2013-09-08       Impact factor: 3.444

5.  Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Authors:  X Y Hu; P N Ray; E G Murphy; M W Thompson; R G Worton
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

6.  Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Authors:  Junko Oshima; Daniel B Magner; Jennifer A Lee; Amy M Breman; Eric S Schmitt; Lisa D White; Carol A Crowe; Michelle Merrill; Parul Jayakar; Aparna Rajadhyaksha; Christine M Eng; Daniela del Gaudio
Journal:  Hum Genet       Date:  2009-05-16       Impact factor: 4.132

7.  Duplication detection in Japanese Duchenne muscular dystrophy patients and identification of carriers with partial gene deletions using pulsed-field gel electrophoresis.

Authors:  M Kodaira; K Hiyama; T Karakawa; H Kameo; C Satoh
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

8.  Multiple mutation in an extended Duchenne muscular dystrophy family.

Authors:  A Miciak; A Keen; D Jadayel; S Bundey
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

9.  Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.

Authors:  R H Devlin; S Deeb; J Brunzell; M R Hayden
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

10.  Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco.

Authors:  Hanane Bellayou; Khalil Hamzi; Mohamed Abdou Rafai; Mehdi Karkouri; Ilham Slassi; Houssine Azeddoug; Sellama Nadifi
Journal:  J Biomed Biotechnol       Date:  2009-05-19
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