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