Mutationsanalyse

Die Mutationsanalyse wird in der Humangenetik angewandt, um Mutationen ausfindig zu machen und damit festzustellen, ob ein Patient an einer Erbkrankheit leidet oder nicht.

Methoden der Mutationsanalyse

SSCP (Single-Stranded Conformation Polymorphism Analysis)
DHPLC (Denaturing High Performance Liquid Chromatography, selten auch Denaturating HPLC)
DNA-Chip-Technologie
Two Dimensional Gene Scanning (TDSG)-Technologie
Conformation Sensitive Gel Electrophoresis (CSGE)-Technologie

Literatur

B. Yu, S. A. O'Toole, R. J. Trent: Somatic DNA mutation analysis in targeted therapy of solid tumours. In: Translational pediatrics. Band 4, Nummer 2, April 2015, S. 125–138, doi:10.3978/j.issn.2224-4336.2015.04.04, PMID 26835368, PMC 4729091 (freier Volltext).
M. Gundry, J. Vijg: Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants. In: Mutation research. Band 729, Nummer 1–2, Januar 2012, S. 1–15, doi:10.1016/j.mrfmmm.2011.10.001, PMID 22016070, PMC 3237897 (freier Volltext).

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