title: Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
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.
mesh_terms: D002503:Centromere; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure; D004274:DNA, Recombinant; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009693:Nucleic Acid Hybridization
chemical_list: D004274:DNA, Recombinant