Molecular analysis of the fragile X syndrome.

Article

Molecular analysis of the fragile X syndrome.

Disease markers - 1 Jan 2000

Knight S J, Hirst M C, Davies K E

Abstract excerpt

Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of t...

Topics

Fragile X Mental Retardation Protein
Fragile X Syndrome
Gene Expression
Humans
Mutation
Nerve Tissue Proteins
RNA-Binding Proteins

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