Novel dystrophin mutations revealed by analysis of dystrophin mRNA: Alternative splicing suppresses the phenotypic effect of a nonsense mutation

Neuromuscular Disorders

Volumn 11, Issue 2, 2001, Pages 133-138

  Fajkusova, Lenka ^a   Lukas, Zdeneik ^b   Tvrdikova, Miroslava ^a   Kuhrova, Viera ^a   Hajek, Jiri ^b   Fajkus, Jiri ^c  

^a Research Institute of Child Health Brno   (Czech Republic)

^b VA Brno   (Czech Republic)

^c INSTITUTE OF BIOPHYSICS   (Czech Republic)

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Dystrophin mRNA; Mutation; Protein truncation test; Reverse transcription polymerase chain reaction

Indexed keywords

DYSTROPHIN; MESSENGER RNA;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUTATION; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCHOOL CHILD;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; HUMANS; IMMUNOHISTOCHEMISTRY; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PHENOTYPE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0035094729     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00169-3     Document Type: Article

References (16)

1. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
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3. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
4. Deletion screening of the Duchenne muscular dystrophy locus via multiplex PCR amplification
5. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
6. Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR
7. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
8. Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetics disease
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10. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
11. Characterization of two non-sense mutations in the human dystrophin gene
12. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
13. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a non-sense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
14. Patterns of deletions of the dystrophin gene in different European populations
15. DNA loop domains in a 1.4-Mb region around the human hprt gene mapped by cleavage mediated by nuclear matrix-associated topoisomerase II
16. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies