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Genotypic characterization of brazillian patients with deficiency in DNA repair processes.

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Ligia Pereira Castro
Total Authors: 1
Document type: Doctoral Thesis
Press: São Paulo.
Institution: Universidade de São Paulo (USP). Instituto de Ciências Biomédicas (ICB/SDI)
Defense date:
Examining board members:
Carlos Frederico Martins Menck; Rodrigo da Silva Galhardo; Soraia Attie Calil Jorge; Oswaldo Keith Okamoto; Mari Cleide Sogayar
Advisor: Carlos Frederico Martins Menck

Mutations at DNA repair genes are associated with rare genetic diseases such as Xeroderma pigmentosum, Cockayne syndrome and Trichothiodystrophy. This study aimed to identify mutations responsible for these syndromes in Brazilian patients. Initially the project focused on the study of Araras community in the state of Goiás, where there is one of the densest known areas of XP patients. Two mutations were identified at POLH gene, associated with two independent founders effects in the region. The seventeen patients between 10 and 80, characterized genetically a wide range of heterogeneity of clinical symptoms with mild to extremely aggressive phenotypes. Brazilian patients from other places were studied, including seventeen other patients with XP, CS and TTD phenotypes. In the second part of this work, we evaluated the response of XP-V cell lines treated with cisplatin. It was observed that Pol eta deficient cells are more sensitive to damage induced by cisplatin, as well as encounter problems in the S phase replication after 24 hours of treatment, and have increased high-level fluorescence for gH2AX. (AU)

FAPESP's process: 13/17513-0 - Cellular and molecular characterization of Xeroderma pigmentosum brazilian patients
Grantee:Ligia Pereira Castro
Support type: Scholarships in Brazil - Doctorate (Direct)