Literature DB >> 1383546

Identification of a new DMD gene deletion by ectopic transcript analysis.

F Rininsland1, A Hahn, S Niemann-Seyde, R Slomski, F Hanefeld, J Reiss.   

Abstract

The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved and their separation by huge introns. These problems can be overcome by the analysis of mRNA rather than genomic DNA and ectopic transcripts derived from peripheral blood lymphocytes provide a convenient source of material. Using reverse transcription and nested PCR, we show here a comprehensive strategy for the rapid and complete analysis of the coding sequences from complex genes and illustrate its potential by the identification of a hitherto undescribed single exon deletion.

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Year:  1992        PMID： 1383546      PMCID： PMC1016097          DOI： 10.1136/jmg.29.9.647

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


  25 in total

1.  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

2.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

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.  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.  Illegitimate transcription: transcription of any gene in any cell type.

Authors:  J Chelly; J P Concordet; J C Kaplan; A Kahn
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

6.  Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

Authors:  A Russo; G Barbujani; M L Mostacciuolo; F H Herrmann; A W Spiegler; G Galluzzi; G A Danieli
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

7.  Gene deletions in X-linked muscular dystrophy.

Authors:  M Lindlöf; A Kiuru; H Kääriäinen; H Kalimo; H Lang; H Pihko; J Rapola; H Somer; M Somer; M L Savontaus
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

8.  The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authors:  M Koenig; A P Monaco; L M Kunkel
Journal:  Cell       Date:  1988-04-22       Impact factor: 41.582

9.  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

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736
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  6 in total

Review 1.  Cellular kinetics of neuroblastoma and the role of surgery.

Authors:  Tatsuo Kuroda
Journal:  Pediatr Surg Int       Date:  2011-07-19       Impact factor: 1.827

2.  Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid [correction of lymphoplastoid] cells.

Authors:  H Nishio; M Matsuo; Y Kitoh; N Narita; M Shimmoto; Y Suzuki; H Nakamura
Journal:  J Neurol       Date:  1993-12       Impact factor: 4.849

3.  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

4.  Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

Authors:  S Niemann-Seyde; R Slomski; F Rininsland; U Ellermeyer; J Kwiatkowska; J Reiss
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

5.  Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families.

Authors:  J Bronzova; A Todorova; L Kalaydjieva
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

6.  The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.

Authors:  Kristy Iskandar; Ery Kus Dwianingsih; Linda Pratiwi; Alvin Santoso Kalim; Hasna Mardhiah; Alifiani H Putranti; Dian K Nurputra; Agung Triono; Elisabeth S Herini; Rusdy G Malueka; Poh San Lai
Journal:  BMC Res Notes       Date:  2019-10-28
  6 in total

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