Article
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.
The Journal of molecular diagnostics : JMD - 1 May 2005
Jarvis Michael, Iyer Ramaswamy K, Williams Laurina O, Noll Walter W, Thomas Kirk, Telatar Milhan, Grody Wayne W
Abstract excerpt
The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived mutation-positive samples could be surmounted if it were possible to construct artificial samples containing mutations of interest that would sufficiently resemble...
Topics
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Genetic Testing
- Humans
- Mutagenesis, Site-Directed
- Mutation
- Plasmids
- Quality Control