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Frataxin gene GAA tri-nucleotide repeats in patients with myelodysplasia (MDS)

Grant number: 10/15935-7
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): December 01, 2010
Effective date (End): November 30, 2011
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Sara Teresinha Olalla Saad
Grantee:Karla Augusta Cavagnini
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil


Recent preliminary American research showed that changes in frataxin gene repeats may occur in patients with myelodysplasia. The results indicated that MDS patients exhibit longer GAA repeats in the frataxin gene than healthy individuals, suggesting a somatic mutation of this gene in hematopoietic cells from patients with MDS. The aim of the present study is to identify the frataxina gene GAA tri-nucleotide repeats in patients with myelodysplasia (MDS) and acute leukaemias (AML) and correlate the number of these repetitions with normal controls. For this, it was analyzed genomic DNA from patients and controls, obtained from bone marrow (BM) and peripheral blood (PB), to compare possible changes in repeats of the FXN gene in abnormal bone marrow clones.