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© 1993 Oxford University Press

RESEARCH-ARTICLE

Fine structure of the human FMR1 gene

Evan E. Eichler, Stephen Richards, Richard A. Gibbs and David L. Nelson*

Institute for Molecular Genetics and the Human Genome Center, Baylor College of Medicine Houston, TX 77030. USA

*To whom correspondence should be addressed at: Institute for Molecular Genetics, Room 902E, Human Genome Center, Baylor College of Medicine, Houston, TX 77030, USA

Received May 10, 1993; Accepted June 9, 1993

The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. To further our understanding of the gene's involvement in the syndrome, we report the physical structure of this locus. A high resolution restriction map of the FRAX(A) locus has been prepared encompassing approximately 50 kb. Using exon-exon PCR and restriction analysis, the FMR1 gene has been determined to consist of 17 exons spanning 38 kb of Xq27.3. Each intron-exon boundary has been sequenced. In general, the splice donors and acceptors located in the 5' portion of the gene demonstrate greater adherence to consensus than those in the 3' end, providing a possible explanation for the finding of alternative splicing in FMR1. The elucidation of the exon composition of the FMR1 gene and Its flanking region will enhance detection of coding sequence mutations possible in fragile X phenocopy individuals.


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