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We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the FRAXA locus. In these families we demonstrate the presence of a GCC trinucleotide repeat expansion at the FRAXE locus. Studies of the FRAXE locus of normal individuals show that they have 6-25 copies of the repeat, whereas affected individuals have > 200 copies. As in the fragile X syndrome, the amplified CpG residues are methylated in affected males.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

07/1994

Volume

55

Pages

81 - 86

Keywords

DNA, Dinucleoside Phosphates, Down Syndrome, Female, Fragile X Syndrome, Humans, Male, Pedigree, Phenotype, Repetitive Sequences, Nucleic Acid, Restriction Mapping