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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 the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct detection of the mutation enables the identification of fragile X negative normal transmitting males and fragile X negative carrier females.

Type

Journal article

Journal

Dis Markers

Publication Date

01/1992

Volume

10

Pages

1 - 5

Keywords

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