指甲髌骨综合征再探讨：连锁分析50年后

Nail patella syndrome revisited: 50 years after linkage.

作者信息

McIntosh I, Dunston J A, Liu L, Hoover-Fong J E, Sweeney E

机构信息

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway/BRB 407, Baltimore, MD 21205, USA.

出版信息

Ann Hum Genet. 2005 Jul;69(Pt 4):349-63. doi: 10.1111/j.1529-8817.2005.00191.x.

DOI:10.1111/j.1529-8817.2005.00191.x

PMID:15996164

Abstract

Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns. Kidney disease and glaucoma are now recognised as part of the syndrome. Fifty years ago, James Renwick chose NPS to develop methods of linkage analysis in humans and revealed the third linkage group identified in man--that between NPS and the ABO blood group loci. After a fallow period of some forty years, the gene mutated in NPS has been identified (LMX1B) and the condition serves as a model for understanding the complex relationships between disease loci, modifier genes and the resultant clinical phenotype.

摘要

指甲髌骨综合征（NPS；OMIM #161200）是一种多效性疾病，具有指甲、膝盖、肘部受累以及髂骨角的典型临床四联征。肾脏疾病和青光眼现在被认为是该综合征的一部分。五十年前，詹姆斯·伦威克选择NPS来开发人类连锁分析方法，并揭示了人类中确定的第三个连锁群——NPS与ABO血型位点之间的连锁群。经过约四十年的停滞期后，NPS中发生突变的基因已被鉴定出来（LMX1B），该疾病成为理解疾病位点、修饰基因与最终临床表型之间复杂关系的模型。