Literature DB >> 1552558

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

S Abbs1, M Bobrow.   

Abstract

A direct, non-radioactive method of quantitative PCR amplification has been investigated for the diagnosis of deletion and duplication carriers in the dystrophin gene. The simultaneous amplification of two loci, or several loci using multiplex PCR, allows for the direct comparison of relative amounts of products from normal homozygous loci and potentially heterozygous deleted/duplicated loci. Sufficient cycles of PCR are performed to enable visual analysis or densitometric quantification of products on ethidium bromide stained gels. The method has been verified in blind trials performed on known genotypes and by showing that under the conditions used the assay remains within the exponential phase of amplification.

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Year:  1992        PMID： 1552558      PMCID： PMC1015896          DOI： 10.1136/jmg.29.3.191

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


  16 in total

1.  A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Authors:  S Abbs; S C Yau; S Clark; C G Mathew; M Bobrow
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

2.  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

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.  Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.

Authors:  T W Prior; A C Papp; P J Snyder; W E Highsmith; K J Friedman; T R Perry; L M Silverman; J R Mendell
Journal:  Clin Chem       Date:  1990-12       Impact factor: 8.327

5.  Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; S Abbs; J Heckmatt; E Rodillo; M Bobrow; V Dubowitz
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

6.  Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction.

Authors:  G Gilliland; S Perrin; K Blanchard; H F Bunn
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

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.  Germline mosaicism and Duchenne muscular dystrophy mutations.

Authors:  E Bakker; C Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; W Van Hul; G J Van Ommen; A Vandenberghe; P L Pearson
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

9.  Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.

Authors:  J T den Dunnen; E Bakker; E G Breteler; P L Pearson; G J van Ommen
Journal:  Nature       Date:  1987 Oct 15-21       Impact factor: 49.962

10.  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
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  11 in total

1.  The scope of quantitative polymerase chain reaction assays in clinical molecular pathology.

Authors:  R D Malcomson; C T McCullough; D J Bruce; D J Harrison
Journal:  Clin Mol Pathol       Date:  1995-08

2.  The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.

Authors:  Veronica Ferreiro; Florencia Giliberto; Liliana Francipane; Irene Szijan
Journal:  Mol Diagn       Date:  2005

Review 3.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

4.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

5.  Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Authors:  S C Yau; M Bobrow; C G Mathew; S J Abbs
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

6.  Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Eduard Gappmaier; Michael T Howard; Jacinda B Sampson; Jerry R Mendell; Cheryl Wall; Wendy M King; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Carrie M Stephan; Karla S Laubenthal; Brenda L Wong; Paula J Morehart; Amy Meyer; Richard S Finkel; Carsten G Bonnemann; Livija Medne; John W Day; Joline C Dalton; Marcia K Margolis; Veronica J Hinton; Robert B Weiss
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

7.  Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF).

Authors:  T H Bui; M Anvret; N Dahl; L Garoff; P Sjöblom; T Hillensjö
Journal:  J Assist Reprod Genet       Date:  1994-03       Impact factor: 3.412

8.  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

9.  Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.

Authors:  Nayereh Nouri; Esmat Fazel-Najafabadi; Mansoor Salehi; Majid Hosseinzadeh; Mahdieh Behnam; Mohammad Reza Ghazavi; Maryam Sedghi
Journal:  Adv Biomed Res       Date:  2014-01-27

10.  Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

Authors:  S Hussain Askree; Ephrem L H Chin; Lora H Bean; Bradford Coffee; Alice Tanner; Madhuri Hegde
Journal:  BMC Genet       Date:  2013-12-05       Impact factor: 2.797
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