Literature DB >> 3358426

The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.

J D Chen1, M J Denton, G Morgan, J H Pearn, A G Mackinlay.   

Abstract

Deletion is a common cause of Duchenne muscular dystrophy (DMD). Field-inversion gel electrophoresis, in conjunction with Southern blot hybridization, was used to detect large SfiI DNA fragments in the DMD locus. Two unrelated boys with DMD were found to have abnormal sized DNA fragments resulting from deletions. Some of the female relatives of these patients were also shown by this method to have deletions in the DMD locus.

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Year:  1988        PMID： 3358426      PMCID： PMC1715181     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  13 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

2.  Muscular dystrophy: mapping the disease phenotype.

Authors:  M Robertson
Journal:  Nature       Date:  1987 Jun 4-10       Impact factor: 49.962

3.  Electrophoretic separations of large DNA molecules by periodic inversion of the electric field.

Authors:  G F Carle; M Frank; M V Olson
Journal:  Science       Date:  1986-04-04       Impact factor: 47.728

4.  Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.

Authors:  A P Monaco; C J Bertelson; C Colletti-Feener; L M Kunkel
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

5.  Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.

Authors:  G F Carle; M V Olson
Journal:  Nucleic Acids Res       Date:  1984-07-25       Impact factor: 16.971

6.  Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.

Authors:  S Kenwrick; M Patterson; A Speer; K Fischbeck; K Davies
Journal:  Cell       Date:  1987-01-30       Impact factor: 41.582

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.  Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis.

Authors:  D C Schwartz; C R Cantor
Journal:  Cell       Date:  1984-05       Impact factor: 41.582

9.  A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.

Authors:  B T Darras; U Francke
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

10.  A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.

Authors:  G J van Ommen; J M Verkerk; M H Hofker; A P Monaco; L M Kunkel; P Ray; R Worton; B Wieringa; E Bakker; P L Pearson
Journal:  Cell       Date:  1986-11-21       Impact factor: 41.582
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  7 in total

1.  Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.

Authors:  E D Kelly; C A Graham; A J Hill; N C Nevin
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

2.  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

3.  Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

Authors:  T Ried; V Mahler; P Vogt; L Blonden; G J van Ommen; T Cremer; M Cremer
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

4.  Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

Authors:  C S Richards; S C Watkins; E P Hoffman; N R Schneider; I W Milsark; K S Katz; J D Cook; L M Kunkel; J M Cortada
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

5.  High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

Authors:  L A Blonden; J T den Dunnen; H M van Paassen; M C Wapenaar; P M Grootscholten; H B Ginjaar; E Bakker; P L Pearson; G J van Ommen
Journal:  Nucleic Acids Res       Date:  1989-07-25       Impact factor: 16.971

6.  An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male.

Authors:  V Verga; R P Erickson
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

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
  7 in total

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