A candidate gene for mild mental handicap at the FRAXE fragile site.

Journal article

The cytogenetic expression of the folate sensitive fragile site, FRAXE, is due to the expansion of a GCC repeat in proximal Xq28 of the human X chromosome and is associated with a mild form of mental handicap. Normal individuals have 6-35 copies of the repeat whereas cytogenetically positive, developmentally delayed males have > 200 copies and show methylation of the associated CpG island. Through the use of conserved sequences adjacent to the FRAXE GCC repeat, we have isolated a 1495 bp c...

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Authors: Chakrabarti, L; Knight, S; Flannery, A; Davies, K

• Journal: Human molecular genetics
• Volume: 5
• Issue: 2
• Pages: 275-282
• Publication date: 1996-02-01
• DOI: 10.1093/hmg/5.2.275
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Chromosome Fragility; Blotting, Northern; DNA, Complementary; Sequence Analysis; Conserved Sequence; Gene Library; X Chromosome; Brain; Humans; Base Sequence; Chromosome Mapping; Amino Acid Sequence; Molecular Sequence Data; Fragile X Syndrome; Chromosome Fragile Sites; Polymerase Chain Reaction