Only two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animal species. We have analyzed the FRAXA region containing the CGG repeat in several different species by PCR amplification. In most mammals this region could be amplified; the number of copies of the repeat is deduced. © 1994 Wiley-Liss, Inc.

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American Journal of Medical Genetics
Department of Clinical Genetics

Deelen, W.H, Bakker, C.E, Halley, D.J.J, & Oostra, B.A. (1994). Conservation of CGG region in FMR1 gene in mammals. American Journal of Medical Genetics, 51(4), 513–516. doi:10.1002/ajmg.1320510445