GENETIC-LINKAGE OF A POLYMORPHISM IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) TO PRIMARY OSTEOARTHRITIS ASSOCIATED WITH MILD CHONDRODYSPLASIA

被引:165
作者
KNOWLTON, RG
KATZENSTEIN, PL
MOSKOWITZ, RW
WEAVER, EJ
MALEMUD, CJ
PATHRIA, MN
JIMENEZ, SA
PROCKOP, DJ
机构
[1] THOMAS JEFFERSON UNIV, JEFFERSON MED COLL, DEPT BIOCHEM & MOLEC BIOL, PHILADELPHIA, PA 19107 USA
[2] THOMAS JEFFERSON UNIV, JEFFERSON MED COLL, DEPT MED, PHILADELPHIA, PA 19107 USA
[3] CASE WESTERN RESERVE UNIV, SCH MED, DEPT MED, CLEVELAND, OH 44106 USA
[4] CASE WESTERN RESERVE UNIV, SCH MED, DEPT RADIOL, CLEVELAND, OH 44106 USA
关键词
D O I
10.1056/NEJM199002223220807
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
OSTEOARTHRITIS is a clinically heterogeneous disease characterized by a progressive degeneration of the articular cartilages of both weight-bearing and non-weight-bearing joints.1 Some forms of the disease are due to environmental or systemic events, such as trauma, infections, and metabolic disorders, but most patients have primary osteoarthritis for which there is no identifiable cause. At the same time, the inheritance of the disease in some families is well documented.2,3 We analyzed restriction-fragmentlength polymorphisms (RFLPs) to show that one allele of the gene for Type II procollagen (COL2A1), the precursor of the major protein of cartilage,4,5 is inherited with a precocious form. © 1990, Massachusetts Medical Society. All rights reserved.
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收藏
页码:526 / 530
页数:5
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