Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

American Association for the Advancement of Science (AAAS) - Tập 236 Số 4805 - Trang 1100-1102 - 1987
David Barker1, E. A. Wright1, K. Nguyen1, Lisa Cannon‐Albright1, Pamela R. Fain1, David D.L. Bowtell1, D. Timothy Bishop1, John C. Carey2, Bonnie J. Baty2, Jane D. Kivlin3, H.F. Willard4, John S. Waye4, Gillian Greig4, Leslie A. Leinwand5, Yusuke Nakamura6, P. OʼConnell6, Gholson J. Lyon6, Jean-Marc Lalouel6, R. White6, Mark H. Skolnick1
1Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132.
2Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UT 84132.
3Department of Ophthalmology, University of Utah Medical Center, Salt Lake City, UT 84132.
4Department of Medical Genetics, University of Toronto, Toronto, Canada, M5S 1AB.
5Departments of Microbiology and Immunology and of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461.
6Howard Hughes Medical Institute and Department of Human Genetics, University of Utah Medical Center, Salt Lake City, UT 84132.

Tóm tắt

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

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American Association for the Advancement of Science (AAAS)

Tập 236 Số 4805

1100-1102

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