title: Fine mapping of the nail-patella syndrome locus at 9q34.
abstract: Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).
authors.affiliation: Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287-4922, USA. imcintos@welchlink.welch.jhu.edu
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: M V
authors.initials: MV
authors.lastname: Clough
authors.forename: A A
authors.initials: AA
authors.lastname: Schäffer
authors.forename: E G
authors.initials: EG
authors.lastname: Puffenberger
authors.forename: V K
authors.initials: VK
authors.lastname: Horton
authors.forename: K
authors.initials: K
authors.lastname: Peters
authors.forename: M H
authors.initials: MH
authors.lastname: Abbott
authors.forename: C M
authors.initials: CM
authors.lastname: Roig
authors.forename: S
authors.initials: S
authors.lastname: Cutone
authors.forename: L
authors.initials: L
authors.lastname: Ozelius
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: R E
authors.initials: RE
authors.lastname: Pyeritz
authors.forename: L J
authors.initials: LJ
authors.lastname: Brown
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
authors.forename: M K
authors.initials: MK
authors.lastname: McCormick
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010375:Pedigree