Article
Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
Journal of medical genetics - 1 Jul 1995
Whittall R, Gudnason V, Weavind G P, Day L B, Humphries S E, Day I N
Abstract excerpt
We have modified several aspects of the single strand conformational polymorphism (SSCP) method to increase the speed with which the technique can be used for mutation detection. The methods attain high resolution of small mobility differences using long (30 cm) gels and use a modified polymerase...
Topics
- Alleles
- Base Sequence
- Electrophoresis, Polyacrylamide Gel
- Exons
- Genetic Testing
- Humans
- Hyperlipoproteinemia Type II
- Molecular Sequence Data
- Phosphorus Radioisotopes
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL
- Sensitivity and Specificity