title: Linkage of Niemann-Pick disease type C to human chromosome 18.
abstract: We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
authors.forename: E D
authors.initials: ED
authors.lastname: Carstea
authors.forename: M H
authors.initials: MH
authors.lastname: Polymeropoulos
authors.forename: C C
authors.initials: CC
authors.lastname: Parker
authors.forename: S D
authors.initials: SD
authors.lastname: Detera-Wadleigh
authors.forename: R R
authors.initials: RR
authors.lastname: O'Neill
authors.forename: M C
authors.initials: MC
authors.lastname: Patterson
authors.forename: E
authors.initials: E
authors.lastname: Goldin
authors.forename: H
authors.initials: H
authors.lastname: Xiao
authors.forename: R E
authors.initials: RE
authors.lastname: Straub
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
mesh_terms: D002887:Chromosomes, Human, Pair 18; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D009542:Niemann-Pick Diseases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers