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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Ferrari, I. Queiroz, L. B. Córdoba, M. S. Camargo, R. Lima, B. D. Mazzeu, J. F. Martins-de-Sá, C. Magalhaes, I. Q. |
| Description | Country affiliation: Brazil Author Affiliation: Queiroz LB ( Departamento de Biologia Celular, Universidade de Brasília, Brasília, DF, Brasil.) |
| Abstract | It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of DS patients and the applicability of these mutations as a clonal marker to detect minimal residual disease, we screened 198 samples of 169 patients with DS for mutations in GATA1 exon 2 by direct sequencing. Novel mutations were detected in four of the 169 DS patients (2 with TMD and 2 with ML-DS). We examined spontaneous remission and response to therapy in TMD and ML-DS patients and concluded that these mutations can be used as stable markers in PCR analysis to monitor these events. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 4 |
| Volume Number | 12 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Date | 2013-10-18 |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Down Syndrome Genetics Frameshift Mutation Gata1 Transcription Factor Leukemia, Myeloid Myeloproliferative Disorders Dna Mutational Analysis Drug Therapy Genetic Association Studies Genetic Predisposition To Disease Infant Infant, Newborn Research Support, Non-u.s. Gov't Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article |
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