Linkage analysis in two large Italian pedigrees affected with nail patella syndrome

Salvatore Melchionda, Marco Seri, Massimo Carella, Maria Rosaria Piemontese, Xiao Xiao Zhang, Leopolde Zelante, Giovanni Romeo, Paolo Gasparini

Research output: Contribution to journalArticle

Abstract

Nail patella syndrome (NPS) or osteo-onychodysplasia, is an autosomal dominant disorder characterised 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. Recently, informative recombination events placed the NPS locus within a 1-2 cM interval within D9S60 and the AK1 gene. We describe here linkage analysis performed in two large Italian pedigrees with 10 and 11 members affected, respectively. A set of highly informative markers have been analysed and the allele segregation in the two families confirmed the linkage to chromosome 9. The presence of three recombination events allows definition of the critical region with a centrometric boundary between markers D9S1881 and D9S1840 and a telomeric boundary between markers D9S315 and D9S290.

Original languageEnglish
Pages (from-to)345-349
Number of pages5
JournalEuropean Journal of Human Genetics
Volume6
Issue number4
Publication statusPublished - Jul 1998

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Keywords

  • 9q34
  • Linkage analysis
  • Nail patella syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Melchionda, S., Seri, M., Carella, M., Piemontese, M. R., Zhang, X. X., Zelante, L., Romeo, G., & Gasparini, P. (1998). Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. European Journal of Human Genetics, 6(4), 345-349.