Humane Thiopurin-S-Methyltransferase (TPMT): Neue Methode zum Mutationsscreening und Untersuchung zum Genotyp-Phänotyp-Zusammenhang

Humane Thiopurin-S-Methyltransferase (TPMT): Neue Methode zum Mutationsscreening und Untersuchung zum Genotyp-Phänotyp-Zusammenhang

Tim Barthoff

Doctoral thesis

Date of Examination: 2012-10-02

Date of issue: 2012-09-28

Advisor: Ahsen, Nicolas von Prof. Dr.

Referee: Ahsen, Nicolas von Prof. Dr.

Referee: Vormfelde, Stefan PD Dr.

Referee: Oppermann, Martin Prof. Dr.

Persistent Address: http://hdl.handle.net/11858/00-1735-0000-000D-F011-3

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Abstract

English

Thiopurines (Azathioprine, 6-Mercaptopurine) are immunosuppressive / immunomodulatory drugs with many clinical indications. At present 26 TPMT polymorphisms are known of which the most common are the *3A, *3C and *2 mutations. Furthermore, *1 and *1S alleles are associated with wild-type activity. This genetic polymorphism is an important factor responsible for individual variation in thiopurine drug response. We searched for new mutations with gene scanning and high resolution melting (HRM) as a sensitive method. HRM DNA analysis is a rapid technique for mutation detection based on the temperature dissociation characteristics of the DNA in the presence of a double-strand binding fluorescent dye.

Keywords: Thiopurin-S-methyltransferase; Gene-scanning; High-Resolution Melting

Other Languages

Seit über 40 Jahren sind die Thiopurine zur Behandlung von hämatologischen Neoplasien, Unterdrückung von Abstoßungsreaktionen nach Organtransplantation, Autoimmunerkrankungen, wie Morbus Crohn und Collitis Ulcerosa, und Erkrankungen aus dem rheumatischen Formenkreis bewährte Medikamente. Das zurzeit in europa am Häufigsten eingesetzte Thiopurin ist das Azathioprin (Imurek

Schlagwörter: Thiopurin-S-methyltransferase; Gene-scanning; High-Resolution Melting