REPORTS: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity |
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| Authors: | Robin, Nathaniel H. Feldman, George J. Mitchell, Heather F. Lorenz, Peter Wilroy, R.Sid Zackal, Elaine H. AIIanson, Judith E. Reich, Elsa W. Pfeiffer, Rudolf A. Clarke, Lome A. Warmani, Matthew L. Mulliken, John B. Brueton, Louise A. Winter, Robin M. Price, R.Arien Gasser, David L. Muenke, Maximilian |
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| Affiliation: | 1Department of Pediatrics, University of Pennsylvania School of Medicine Philadelphia, PA 19104–4399, USA 2Genetics, University of Pennsylvania School of Medicine Philadelphia, PA 19104–4399, USA 3Psychiatry, University of Pennsylvania School of Medicine Philadelphia, PA 19104–4399, USA 4Institut für Klineche Genetik der Universitat Dresden 01067 Dresden, Germany 5Department of Pediatrics, University of Tennessee Memphis, TN 38111, USA 6Children's Hospital of Eastern Ontario, Division of Genetics Ottawa, Ontario K1H 8L1, Canada 7Division of Human Genetics, New York University School of Medicine New York, NY 10016–6402, USA 8lnstitut fur Humangenetik der Universitat Nümberg-Erlangen 8520 Erlangen, Germany 9Department of Medical Genetics, University of British Columbia, Vancouver British Columbia V6T 2B5, Canada, Children's Hospital, Harvard Medical School 10Divisions of Genetics Boston, MA 02115, USA 11Plastic Surgory Boston, MA 02115, USA 12Kennedy-Galton Centre, Northwtck Park Hospital Harrow, Middlesex HA1 3UJ 13lnstrtute of Child Health and Great Ormond Street Hospital for Children London WC1N 1EH, UK |
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| Abstract: | Pfeiffer syndrome (PS) Is an autosomal dominant disorder characterizedby cranlosynostosis, mldfaclal hypoplasia, and broad thumbsand great toes. We examined 129 Individuals from 11 familieswith PS and performed linkage studies using microsatellite markersspanning the entire genome. Strongest support for linkage waswith DNA markers (D8S255, GATA8G08) from chromosome 8. Obligatecrossovers exclude close linkage to this region in six families,and there was significant evidence for genetic heterogeneity.A multipoint lod score of 7.15 was obtained In five families.The 11 cM Interval between D8S278 and D8S285 contains one genefor PS and also spans the centromere of chromosome 8. |
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