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Fig. 6 | Acta Neuropathologica Communications

Fig. 6

From: Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

Fig. 6

a DNA FISH probe generated for the FMR1 locus successfully tags the DNA locus in fibroblasts, lymphocytes, and brain nuclei. DNA FISH probe generated using PCR amplification to tag the FMR1 locus cleanly tags the FMR1 locus at high efficiency in all cell types examined. Metaphase plates generated using control patient-derived fibroblasts exhibit expected tagging patterns, with male samples exhibiting one tag located towards the end of the long arm of the X chromosome, and with female samples exhibiting two such tags. Scoring of over 1100 fibroblast cells in a grid-like fashion showed 97% of cells exhibited sensitive and specific binding. Patient-derived lymphocytes exhibited similar binding and efficiency. Brain nuclei exhibited slightly lowered binding efficiency at 92%, possibly due to degradation of cells due to pre and postmortem conditions. b The FMR1 locus does not preferentially co-localize with inclusions. Out of 563 FXTAS nuclei scored, 518 of the nuclei displayed sensitive and specific probe binding, representing an approximate FISH probe efficiency of 92% in brain tissue. Forty-five nuclei had either no probe signal or multiple probe signals. Forty-nine of the nuclei scored positive for inclusions, representing about 8.7% of the total nuclei present. Forty-two of inclusion-bearing nuclei also showed sensitive and specific probe binding. Forty of these nuclei showed negative colocalization between the FMR1 probe and inclusion, while 2 nuclei showed possible colocalization between the FMR1 probe and the inclusion. These data indicate that the FMR1 gene does not co-localize with FXTAS inclusions

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