![]() A man with an unmethylated expansion of 0.6 kb expressed FMR2 and represents a pre-mutation carrier. Fibroblasts of 11 individuals from seven families segregating FRAXE were assayed for FMR2 expression and FRAXE CpG island methylation. ![]() Fibroblasts, chorionic villi and hair roots showed the highest level of FMR2 expression, whole blood cells and amniocytes showed very low expression, and the transcript was not detected in lymphoblasts. ![]() Both isoforms showed a similar pattern of expression, with the Ox19 isoform expressed at a much lower level. Molecular analysis of the Ox19 transcript suggests that it is a truncated isoform of the FMR2 gene with an alternative 3& amp amp amp amp amp #39 end. Normal individuals express the two alternative transcripts, FMR2 and Ox19, from the FRAXE-associated CpG island.
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