A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP
Non-isotopic single strand conformation polymorphism analysis (SSCP) to detect mutations in the RB gene
โ Scribed by Daniel Roth; Domenico Mastrangelo; Jerry Shields; Renato Frezzotti; Carlo Croce; Larry Donoso
- Book ID
- 115894665
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 165 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0014-4835
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We have employed the single strand conformation polymorphism (SSCP) technique to examine a group of patients with Duchenne or Becker muscular dystrophy who do not contain deletions detectable by multiplex PCR or SoutherdcDNA, in an attempt to identify uncommon mutations within the dystrophin gene. I
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