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
Polymorphism in the human E-selectin gene detected by PCR-SSCP
β Scribed by Katrin Wenzel; Rita Hanke; Astrid Speer
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 160 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
By using the non-isotopic single-strand conformation polymorphism (SSCP) technique to analyse products of the polymerase chain reaction (PCR), we detected a 561-adenine to cytosine substitution resulting in an amino acid exchange from serine to arginine at position 128 of the E-selectin gene. If this amino acid substitution has an effect on the adhesion of blood cells to the endothelium, the polymorphism could be of interest with respect to association studies in a number of pathological conditions, such as cardiovascular diseases.
π SIMILAR VOLUMES
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