title: Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25.
abstract: OBJECTIVE
  Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2.
  
  
  METHODS
  To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. Leukocyte DNA extracted from the family members was subjected to polymerase chain reaction for a total of 22 microsatellite markers on chromosome 17. The amplified polymerase chain reaction fragments were analyzed with GeneScan on an automated sequencer.
  
  
  RESULTS
  Two-point linkage analysis gave a maximum log(10) odds (LOD) score of 3.11 at the recombination fraction of 0.00 for the marker at locus D17S939. The affected pedigree member method also showed a significantly low P value (<1. 0x10(-5)) for the 5 adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4. 58.
  
  
  CONCLUSIONS
  A gene for familial moyamoya disease is located on chromosome 17q25.
authors.affiliation: Section of Neurosurgery, Department of Neuropathophysiology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamauchi
authors.forename: M
authors.initials: M
authors.lastname: Tada
authors.forename: K
authors.initials: K
authors.lastname: Houkin
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: S
authors.initials: S
authors.lastname: Kuroda
authors.forename: H
authors.initials: H
authors.lastname: Abe
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Ikezaki
authors.forename: T
authors.initials: T
authors.lastname: Matsushima
authors.forename: M
authors.initials: M
authors.lastname: Fukui
mesh_terms: D002533:Cerebral Angiography; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009072:Moyamoya Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA