Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique
- 1 January 1993
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 2 (5) , 368-374
- https://doi.org/10.1002/humu.1380020508
Abstract
We have established the experimental conditions to screen twenty regions of the dystrophin gene using the method of single-strand conformational polymorphism (SSCP) analysis. The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA rearrangements detectable by Southern blot analysis or multiplex exon amplification. The investigation of thirteen patients using this procedure resulted in the detection of seven sequence polymorphisms (four identified in this study) that will be useful allelic markers in familial DNA analysis. Three rare sequence variants could be found (two of them being novel variants) but we were unable to demonstrate mutations that could be clearly sufficient to be responsible for the phenotype. This analysis confirmed the efficiency of the SSCP technique for the detection of nucleotide substitutions. Application of this approach to mutation or polymorphism detection to other exons of the gene will improve carrier and prenatal diagnosis.Keywords
This publication has 21 references indexed in Scilit:
- Point mutation in the human dystrophin gene: Identification through Western blot analysisGenomics, 1991
- Detection of 98% of DMD/BMD gene deletions by polymerase chain reactionHuman Genetics, 1990
- Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy geneGenomics, 1990
- Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patientsCell, 1990
- MULTIPLEX PCR FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHYPublished by Elsevier ,1990
- A polymorphic CACA repeat in the 3′ untranslated region of dystrophinNucleic Acids Research, 1990
- Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis.BMJ, 1989
- Further studies of gene deletions that cause Duchenne and Becker muscular dystrophiesGenomics, 1988
- Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplificationNucleic Acids Research, 1988
- Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gelsNature, 1987