Molecular heterogeneity of the fragile X syndrome.

Journal article

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation than affected individuals. We have cloned the region in cosmids and defined the area containing the amplified sequence. We have used probes from the region to analyse the mutation in families. We show...

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Authors: Nakahori, Y; Knight, S; Holland, J; Schwartz, C; Roche, A

• Journal: Nucleic acids research
• Volume: 19
• Issue: 16
• Pages: 4355-4359
• Publication date: 1991-08-01
• DOI: 10.1093/nar/19.16.4355
• EISSN: 1362-4962
• ISSN: 0305-1048
• Language: English
• Keywords: Mutation; Pedigree; Genetic Variation; Humans; Cosmids; Repetitive Sequences, Nucleic Acid; Molecular Sequence Data; Cloning, Molecular; Fragile X Syndrome; Female; Blotting, Southern; Male; Gene Amplification; X Chromosome; Chromosome Mapping; Base Sequence