Literature DB >> 7759086

Identification of variable length polyadenosine tract at the dystrophin locus.

S Tuffery1, P Moine, J Demaille, M Claustres.   

Abstract

We report the characterization of a length polymorphism in the human dystrophin gene, consisting of single-base pair increments in a polyadenosine tract located near the 3' end of exon 68. Using Single Strand Conformation Analysis (SSCA), three length alleles could be identified (10,182 + 13A9/10/11). This class of 1-bp length variant is rare among known intronic gene sequences, and has been described only once in the dystrophin gene. Furthermore, the high polymorphic content (0.56) of this novel marker and its distal localization in the 3' end of the coding sequence make it suitable for diagnostic purposes.

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Year:  1995        PMID: 7759086     DOI: 10.1007/BF00223878

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


  13 in total

1.  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

2.  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

3.  A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.

Authors:  S Tuffery; J Demaille; M Claustress
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

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

Authors:  C Oudet; R Heilig; J L Mandel
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

5.  Genomic organization of exons 22 to 25 of the dystrophin gene.

Authors:  K G Bebchuk; D E Bulman; V N D'Souza; R G Worton; P N Ray
Journal:  Hum Mol Genet       Date:  1993-05       Impact factor: 6.150

6.  Exon structure of the human dystrophin gene.

Authors:  R G Roberts; A J Coffey; M Bobrow; D R Bentley
Journal:  Genomics       Date:  1993-05       Impact factor: 5.736

Review 7.  Slipped-strand mispairing: a major mechanism for DNA sequence evolution.

Authors:  G Levinson; G A Gutman
Journal:  Mol Biol Evol       Date:  1987-05       Impact factor: 16.240

8.  Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.

Authors:  M Ravnik-Glavac; D Glavac; R Komel; M Dean
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

9.  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

10.  Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

Authors:  U Lenk; R Hanke; H Thiele; A Speer
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150

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  2 in total

Review 1.  Poly(A) RNA-binding proteins and polyadenosine RNA: new members and novel functions.

Authors:  Callie P Wigington; Kathryn R Williams; Michael P Meers; Gary J Bassell; Anita H Corbett
Journal:  Wiley Interdiscip Rev RNA       Date:  2014-04-30       Impact factor: 9.957

Review 2.  Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene.

Authors:  Ramin Tadayoni; Alvaro Rendon; L E Soria-Jasso; Bulmaro Cisneros
Journal:  Mol Neurobiol       Date:  2011-11-22       Impact factor: 5.590

  2 in total

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