Gene for Von Recklinghausen Neurofibromatosis is in the Pericentromeric Region of Chromosome 17

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...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1987-05, Vol.236 (4805), p.1100-1102
Main Authors: Barker, D., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Waye, J. S., Greig, G., Leinwand, L., Nakamura, Y., O'Connell, P., Leppert, M., J.-M. Lalouel, White, R., Skolnick, M.
Format: Article
Language:English
Subjects:
Analysis
Biological and medical sciences
Centromere
Centromeres
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 17 - ultrastructure
DNA, Recombinant
Female
Genes
Genetic aspects
Genetic disorders
Genetic Linkage
Genetic loci
Genetic mapping
Genetic mutation
Genetic research
Genetics
Human chromosomes
Human genetics
Humans
Identification and classification
Lod score
Male
Medical disorders
Medical genetics
Medical research
Medical sciences
Neurofibromatoses
Neurofibromatosis
Neurofibromatosis 1 - genetics
Neurology
Nucleic Acid Hybridization
Tumors of the nervous system. Phacomatoses
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.3107130