![]() 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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