对两个患有指甲髌骨综合征的意大利大家族进行的连锁分析。

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

作者信息

Melchionda S, Seri M, Carella M, Piemontese M R, Zhang X X, Zelante L, Romeo G, Gasparini P

机构信息

Servizio di Genetica Medica, IRCCS Ospedale Casa sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

出版信息

Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191.

DOI:10.1038/sj.ejhg.5200191

PMID:9781042

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.

摘要

指甲髌骨综合征（NPS）或骨甲发育不良，是一种常染色体显性疾病，其特征为指甲发育异常、髌骨缺如或发育不全、髂骨角和肾病。先前的研究表明，指甲髌骨位点与人类9号染色体长臂34区的ABO和腺苷酸激酶位点存在连锁关系。最近，信息性重组事件将NPS位点定位在D9S60和AK1基因之间1-2厘摩的区间内。我们在此描述了对两个大型意大利家系进行的连锁分析，这两个家系分别有10名和11名成员患病。分析了一组高信息含量的标记，两个家族中的等位基因分离证实了与9号染色体的连锁关系。三个重组事件的存在使得能够确定关键区域，其着丝粒边界在标记D9S1881和D9S1840之间，端粒边界在标记D9S315和D9S290之间。