Literature DB >> 8104863

Detection of an exon 53 polymorphism in the dystrophin gene.

T W Prior1, A C Papp, P J Snyder, M S Sedra.   

Abstract

We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.

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Year:  1993        PMID： 8104863     DOI： 10.1007/bf00244477

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.

Authors:  D Soto; S Sukumar
Journal:  PCR Methods Appl       Date:  1992-08

2.  Detecting single base substitutions as heteroduplex polymorphisms.

Authors:  M B White; M Carvalho; D Derse; S J O'Brien; M Dean
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

3.  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.

Authors:  B T Darras; P Blattner; J F Harper; A J Spiro; S Alter; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

4.  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

5.  Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.

Authors:  M W Kilimann; A Pizzuti; M Grompe; C T Caskey
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

6.  Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.

Authors:  T W Prior; A C Papp; P J Snyder; A H Burghes; M S Sedra; L M Western; C Bartello; J R Mendell
Journal:  Hum Mol Genet       Date:  1993-03       Impact factor: 6.150

7.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

8.  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

9.  Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

Authors:  S Abbs; R G Roberts; C G Mathew; D R Bentley; M Bobrow
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

10.  Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

Authors:  J S Chamberlain; R A Gibbs; J E Ranier; P N Nguyen; C T Caskey
Journal:  Nucleic Acids Res       Date:  1988-12-09       Impact factor: 16.971
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  1 in total

1.  Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.

Authors:  F Rininsland; J Reiss
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132
  1 in total

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