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

• Published in: American journal of human genetics Vol. 60; no. 1; pp. 133 - 142
• Main Authors: MCINTOSH, I, CLOUGH, M. V, KWIATKOWSKI, D. J, PYERITZ, R. E, BROWN, L. J, PAULI, R. M, MCCORMICK, M. K, FRANCOMANO, C. A, SCHÄFFER, A. A, PUFFENBERGER, E. G, HORTON, V. K, PETERS, K, ABBOTT, M. H, ROIG, C. M, CUTONE, S, OZELIUS, L
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 1997
• Subjects: Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 9; Diseases of the osteoarticular system; Female; Genetic Linkage; Genotype; Humans; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Microsatellite Repeats; Nail-Patella Syndrome - genetics; Pedigree; Genetic mapping; Human; Skin disease; Genetic inheritance; Linkage; Long arm; Family study; Diseases of the osteoarticular system; Dysostosis; Chromosome C9; Genetic disease; Nail(anatomy); Nail patella syndrome; Genetics; Locus
• ISSN: 0002-9297; 1537-6605

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).