Multilocus analysis of the fragile X syndrome |
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| Authors: | W. T. Brown A. Gross C. Chan E. C. Jenkins J. L. Mandel I. Oberlé B. Arveiler G. Novelli S. Thibodeau R. Hagerman K. Summers G. Turner B. N. White L. Mulligan C. Forster-Gibson J. J. A. Holden B. Zoll M. Krawczak P. Goonewardena K. H. Gustavson U. Pettersson G. Holmgren C. Schwartz P. N. Howard-Peebles P. Murphy W. R. Breg H. Veenema N. J. Carpenter |
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| Affiliation: | (1) New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, 10314 Staten Island, NY, USA;(2) Laboratoire de Génétique Moleculaire des Eucaryotes du CNRS, Unite 184 de Biologie Moleculaire et de Genie Génétique de l'INSERM, Faculté de Médicine, 11 rue Humann, F-67085 Strasbourg Cédex, France;(3) Department of Laboratory Medicine, Mayo Clinic, 370 Hilton Building, 55905 Rochester, MN, USA;(4) Child Development Unit, The Children's Hospital, 1056 East 19th Avenue, 80218 Denver, CO, USA;(5) Baylor College of Medicine, Offe Baylor Plaza, Houston, Texas, USA;(6) The Prince of Wales Children's Hospital, Randwick, New South Wales, Australia;(7) Department of Biology, Queens University, K7L 3N6 Kingston, Ontario, Canada;(8) Department of Pediatrics, Queens University, K7L 3N6 Kingston, Ontario, Canada;(9) Genetische Beratungsstelle IM, Institut für Humangenetik, Gosslerstrasse 12 D, D-3400 Göttingen, Germany;(10) Department of Medical Genetics, BMC, Uppsala, Sweden;(11) Department of Clinical Genetics, University Hospital, S-75185 Uppsala, Sweden;(12) Clinical Genetics, University Hospital, Umeå, Sweden;(13) Greenwood Genetic Center, Greenwood Professional Park, Greenwood, South Carolina, USA;(14) Genetics and IVF Institute, 3020 Javier Road, 22031 Fairfax, VA, USA;(15) Department of Human Genetics, Yale University School of Medicine, 10313 SHM, P.O. Box 3333, 06510-8005 New Haven, CT, USA;(16) Institute voor Anthropogenetica, University of Leiden, P.O. Box 9503, NL-2300 RA Leiden, The Netherlands;(17) Children's Medical Center, 5300 Skelley Drive, 74153 Tulsa, OK, USA |
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| Abstract: | Summary A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X). |
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