Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene |
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| Authors: | B R Seizinger G A Rouleau L J Ozelius A H Lane A G Faryniarz M V Chao S Huson B R Korf D M Parry M A Pericak-Vance |
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| Institution: | 1. Neurogenetics Laboratory, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114. USA;2. Department of Molecular Neurogenetics, E. K. Shriver Center, Waltham, Massachusetts 02254. USA;3. Neurosurgical Service, Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114. USA;4. Department of Cell Biology and Anatomy, Cornell University Medical College, New York, New York 10021. USA;5. Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom;6. Department of Genetics, Neurology, Ophthalmology, Children''s Hospital and Harvard Medical School, Boston, Massachusetts 02115. USA;7. Clinical Epidemiology Branch and Radiation Oncology Branch, National Cancer Institute, Bethesda, Maryland 20205. USA;8. Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina 27710. USA;9. Department of Medicine, University of Michigan, Ann Arbor, Michigan 48109. USA;10. Department of Physiology and Biophysics, University of Washington, Seattle, Washington 98185. USA;11. Department of Psychiatry and Biomathematics, UCLA School of Medicine, Los Angeles, California 90024. USA;12. Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina 27514. USA;1. Department of Chemistry, College of Sciences, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Saudi Arabia;2. Biomolecular Crystallography Laboratory, Department of Bioinformatics, School of Chemical and Biotechnology, SASTRA Deemed University, Thanjavur, 613 401, India;3. Department of Pharmaceutical Sciences, College of Pharmacy, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Saudi Arabia;4. Department of Medicinal Chemistry, Faculty of Pharmacy, University of Mansoura, Mansoura, 35516, Egypt;5. Unidad de Polímeros y Electrónica Orgánica, Instituto de Ciencias, Benemérita Universidad Autónoma de Puebla, Val3-Ecocampus Valsequillo, Independencia O2 Sur 50, San Pedro Zacachimalpa, C.P.72960, Pue, Mexico;1. Key Laboratory of Chemical Biology and Traditional Chinese Medicine Research and Key Laboratory of Resource Fine-Processing and Advanced Materials of Hunan Province of MOE, College of Chemistry and Chemical Engineering, Hunan Normal University, Changsha, Hunan 410081, China;2. EaStCHEM School of Chemistry, University of St Andrews, North Haugh, St Andrews Fife KY16 9ST, Scotland, United Kingdom;1. School of Basic Sciences, Indian Institute of Technology Bhubaneswar, Bhubaneswar 752050, India;2. University of Belgrade, Faculty of Chemistry, Belgrade, Serbia;3. MR Neuroimaging Agents, Max Planck Institute for Biological Cybernetics, Tuebingen, Germany;4. Centro de Investigacións Científicas Avanzadas (CICA) and Departamento de Química, Facultade de Ciencias, Universidade da Coruña, 15071 A Coruña, Galicia, Spain |
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| Abstract: | von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized clinically by hyperpigmented patches of skin (café au lait macules, axillary freckles) and by multiple tumors of peripheral nerve, spinal nerve roots, and brain (neurofibromas, optic gliomas). These tumors can cause disfigurement, paralysis, blindness, and death. We have determined the chromosomal location of the VRNF gene by genetic linkage analysis using DNA markers. The VRNF gene is genetically linked to the locus encoding nerve growth factor receptor, located on the long arm of chromosome 17 in the region 17q12----17q22. However, crossovers with the VRNF locus suggest that a mutation in the nerve growth factor receptor gene itself is unlikely to be the fundamental defect responsible for the VRNF phenotype. |
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