Mutation analysis
The mutation analysis is in the human genetics applied to mutations to locate and determine if a patient has an inherited disease suffers or not.
Methods of mutation analysis
- SSCP (Single-Stranded Conformation Polymorphism Analysis)
- DHPLC (Denaturing High Performance Liquid Chromatography, rarely also Denaturating HPLC )
- DNA chip technology
- Two Dimensional Gene Scanning (TDSG) technology
- Conformation Sensitive Gel Electrophoresis (CSGE) technology
literature
- B. Yu, SA O'Toole, RJ Trent: Somatic DNA mutation analysis in targeted therapy of solid tumors. In: Translational pediatrics. Volume 4, number 2, April 2015, pp. 125-138, doi : 10.3978 / j.issn.2224-4336.2015.04.04 , PMID 26835368 , PMC 4729091 (free full text).
- M. Gundry, J. Vijg: Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants. In: Mutation research. Volume 729, number 1–2, January 2012, pp. 1–15, doi : 10.1016 / j.mrfmmm.2011.10.001 , PMID 22016070 , PMC 3237897 (free full text).