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[Detection of hypermethylation in affected males with fragile X syndrome by PCR assay].

PCR technique was applied to detect hypermethylation at BssH II recognition sites within CpG island of FMR-1 gene in normal, affected, and clinically suspected males with fragile X syndrome. Hypermethylation was found to occur in all 7 affected and 5 of 26 suspected, but none of 15 normal males. The results of PCR assay are in good coincidence with those of Southern blot and cytogenetic assays. This PCR assay will be a promising method in the diagnosis of fragile X syndrome in males with mental retardation.