[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.
Chai
J
J
Institute of Basic Medical Sciences, CAMS, Beijing.
Shen
Y
Y
Fan
Y
Y
Zhao
S
S
Wu
G
G
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008745:Methylation; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
D004247:DNA