Northeast Brazil

Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

M. T. M. Viveiros, Santos, M. D. C., Santos, J. M. Dos, Viveiros, D. M., Cavalcante, M. R. M., Caldas, A. J. M., and Pimentel, M. M. G., Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil, vol. 14. pp. 6897-6905, 2015.

The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel­lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations.

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