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| Original paper |
| Linkage analysis in two large Italian pedigrees affected with nail patella syndrome |
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| Salvatore Melchionda1, Marco Seri2,a, Massimo Carella1, Maria Rosaria Piemontese1, Xiao-xiao Zhang2, Leopoldo Zelante1, Giovanni Romeo3 and Paolo Gasparini1 |
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1Servizio di Genetica Medica, IRCCS Ospedale Casa sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy
2Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy
3International Agency on Cancer Research, Lyon, France
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aCorrespondence: Dr Marco Seri, Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Largo G. Gaslini n. 5, 16148 Genova Quarto, Italy. Tel: +39 10 5636532; Fax: +39 10 3779797; E-mail: genetica@unige.it |
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| 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. |
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| Keywords |
| nail patella syndrome; linkage analysis; 9q34 |
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| Received 26 August 1997; revised 9 December 1997; accepted 17 December 1997 |
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| July 1998, Volume 6, Number 4, Pages 345-349 |
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