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Figure 3 FMR4 is silenced in fragile X syndrome. (A) RNA from four normal, four premutation and four full mutation FXS patients isolated from untransformed leucocytes (kindly provided by Flora Tassone and Paul Hagerman, UC Davis) was reverse transcribed using random hexamers. Quantitative RT-PCR analysis revealed that FMR4, similar to FMR1, is up-regulated in pre-mutation carriers and shut down in full mutation fragile X patients (P<0.0001). (B) RNA from untransformed leucocytes were reversed transcribed and the cDNA was used for PCR analysis. FMR4 is expressed in normal and premutation carriers but no bands were observed in the full mutation fragile X patients (35 cycles). FMR1 bands were observed in normal, premutation, and one of the full mutation patients (35 cycles). To account for any possible DNA contamination, no reverse transcriptase control for all samples were used in the PCR (lanes next to bands are all negative indicating no DNA contamination was present). Error bars: s.d.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2194623/

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