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Molecular analysis of the fragile X syndrome
S J Knight1, M C Hirst, K E Davies
1Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Disease Markers
|January 1, 1992
Abstract:
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.