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

David Barker , E Wright , K. Nguyen , David Barker , E Wright , K. Nguyen , Lisa A. Cannon , Pamela R. Fain , David E. Goldgar , D. Timothy Bishop , John C. Carey , Bonnie Jeanne Baty , J. Kivlin , H.F. Willard , John S. Waye , Gillian Greig , Leslie A. Leinwand , Yusuke Nakamura , P. O’Connell , M. Leppert , Jean-Marc Lalouel , R. White , Mark H. Skolnick
1987 Science 693 citations

Abstract

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.

Keywords

NeurofibromatosisLocus (genetics)GeneticsCentromereBiologyGeneChromosomePositional cloningGenetic linkageGene mappingChromosome 22

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Publication Info

Year
1987
Type
article
Volume
236
Issue
4805
Pages
1100-1102
Citations
693
Access
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David Barker, E Wright, K. Nguyen et al. (1987). Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17. Science , 236 (4805) , 1100-1102. https://doi.org/10.1126/science.3107130

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DOI
10.1126/science.3107130