Literature DB >> 1968037

An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.

C Oudet1, R Heilig, J L Mandel.   

Abstract

A fragment that contains a (CA)n sequence from the 3' untranslated region of the dystrophin gene can be amplified by the polymerase chain reaction and shows length polymorphism in a Caucasian population. The two common alleles differ by 4bp. This new genetic marker has a heterozygosity of about 35% and is typed more rapidly than a conventional restriction fragment length polymorphism. Its localisation at the 3' end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/Becker muscular dystrophy, and for the analysis of intragenic recombination.

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Year:  1990        PMID： 1968037     DOI： 10.1007/bf00200576

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


  17 in total

1.  A deletion hot spot in the Duchenne muscular dystrophy gene.

Authors:  M C Wapenaar; T Kievits; K A Hart; S Abbs; L A Blonden; J T den Dunnen; P M Grootscholten; E Bakker; C Verellen-Dumoulin; M Bobrow
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

Review 2.  Genetics of Duchenne muscular dystrophy.

Authors:  R G Worton; M W Thompson
Journal:  Annu Rev Genet       Date:  1988       Impact factor: 16.830

3.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

4.  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

5.  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

6.  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

7.  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

8.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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.  Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.

Authors:  M W Thompson; P N Ray; B Belfall; C Duff; C Logan; I Oss; R G Worton
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318
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  17 in total

1.  DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.

Authors:  E Battaloğlu; M Telatar; F Deymeer; P Serdaroğlu; F Kuseyri; C Ozdemir; M Apak; A Tolun
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Cross-species conservation of a polymorphic dinucleotide repeat in the dystrophin gene.

Authors:  A J Maichele; J S Chamberlain
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

3.  Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

Authors:  P R Clemens; R G Fenwick; J S Chamberlain; R A Gibbs; M de Andrade; R Chakraborty; C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

4.  Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

Authors:  C Oudet; R Heilig; A Hanauer; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

5.  Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

Authors:  C A Feener; F M Boyce; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

6.  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

7.  Identification of variable length polyadenosine tract at the dystrophin locus.

Authors:  S Tuffery; P Moine; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

8.  Parental origin of triploidy in human fetuses: evidence for genomic imprinting.

Authors:  D E McFadden; L C Kwong; I Y Yam; S Langlois
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

9.  Spectrum of small mutations in the dystrophin coding region.

Authors:  T W Prior; C Bartolo; D K Pearl; A C Papp; P J Snyder; M S Sedra; A H Burghes; J R Mendell
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

10.  Phylogenetic distribution and genetic mapping of a (GGC)n microsatellite from rice (Oryza sativa L.).

Authors:  X Zhao; G Kochert
Journal:  Plant Mol Biol       Date:  1993-02       Impact factor: 4.076
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