Fine mapping of the nail-patella syndrome locus at 9q34

Iain McIntosh, Mark V. Clough, Alejandro A. Schäffer, Erik G. Puffenberger, V. Kim Horton, Kathryn Peters, Margaret H. Abbott, Carmen M. Roig, Steven Cutone, Laurie Ozelius, David J. Kwiatkowski, Reed E. Pyeritz, Laura J. Brown, Richard M. Pauli, Mary Kay McCormick, Clair A. Francomano

Research output: Contribution to journalArticlepeer-review


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; θ = .00) and D9S315 (LOD = 22.0; θ = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).

Original languageEnglish (US)
Pages (from-to)133-142
Number of pages10
JournalAmerican journal of human genetics
Issue number1
StatePublished - Jan 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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