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© 1994 Oxford University Press

OTHER

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

Ans M.W. van den Ouweland, Wout H. Deelen, Catherine B. Kunst2, Maria-Luisa Giovannucci Uzielli3, David L. Nelson4, Stephen T. Warren2, Ben A. Oostra1 and Dicky J.J. Halley*,

Department of Clinical Genetics, University Hospital Dr. Molewaterplein 50, 3015 GE Rotterdam, the Netherlands 1Erasmus University Dr. Molewaterplein 50, 3015 GE Rotterdam, the Netherlands 2Howard Hughes Medical Institute and Departments of Biochemistry and Pediatrics, Emory University School of Medicine Atlanta, GA 30322, USA 3Department of Pediatrics, ‘Cesare Cocchi’ 50132 Florence, Italy 4Department of Human and Molecular Genetics, Human Genome Center Houston, TX 77030, USA

*Department of Clinical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, the Netherlands

Received June 10, 1994; Revised July 26, 1994; Accepted July 26, 1994

The mutation observed in the fragile X syndrome, an X-linked inherited disorder causing mental retardation, is almost exclusively an expanded CGG repeat in the first exon of the FMR1 gene. Here we describe a daughter of a female carrier, who inherited the fragile X premutation chromosome based on haplotype analysis using flanking markers. However, the CGG repeat sequence and the intragenic polymorphic marker FMRb showed the normal maternal alleles, while two other intragenic markers, FMRa and FRAXAC2 and other, more distant markers, showed the risk haplotype. Since FMRa and FRAXAC2 are located in between the markers CGG and FMRb, this results in patches of normal and fragile X sequences in the FMR1 gene of the daughter. This observation is very likely due to gene conversion. As this daughter received a normal CGG repeat region, we expect that her risk to have affected offspring is the same as the population risk. The observed phenomenon would therefore represent a back mutation at the FMR1 locus.


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