Molecular analysis of the fragile X syndrome.

Journal article

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.

Authors: Knight, S; Hirst, M; Davies, K

• Journal: Disease markers
• Volume: 10
• Issue: 1
• Pages: 1-5
• Publication date: 1992-01-01
• EISSN: 1875-8630
• ISSN: 0278-0240
• Language: English
• Keywords: Nerve Tissue Proteins; Fragile X Mental Retardation Protein; Gene Expression; Mutation; Fragile X Syndrome; Humans; RNA-Binding Proteins