Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.
Publication/Presentation Date
3-1-1993
Abstract
OBJECTIVE: To specify in detail the clinical phenotype in 2 Finnish families demonstrating linkage between the type II procollagen gene (COL2A1) and osteoarthritis (OA). We also reevaluated the linkage and screened the exon sequences of the COL2A1 gene for mutations.
METHODS: We used single-stranded conformation polymorphism and denaturing gradient-gel electrophoresis techniques for the analyses.
RESULTS: The patients' phenotype represented typical, but early-onset, OA. There was no clinical or radiographic evidence of chondrodysplasia. No mutation in the protein-coding regions of the COL2A1 gene could be identified. However, the linkage analysis with a new multiallelic marker resulted in a statistically more significant logarithm of odds (LOD) score than has been reported.
CONCLUSION: Familial OA with classic clinical and radiographic findings is tightly linked to the COL2A1 gene. Systematic screening of the 54 exons did not, however, reveal any mutations; this suggests that the mutation may lie in the promoter region or within the introns of this 35-kb gene.
Volume
36
Issue
3
First Page
401
Last Page
409
ISSN
0004-3591
Published In/Presented At
Vikkula, M., Palotie, A., Ritvaniemi, P., Ott, J., Ala-Kokko, L., Sievers, U., Aho, K., & Peltonen, L. (1993). Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene. Arthritis and rheumatism, 36(3), 401–409. https://doi.org/10.1002/art.1780360317
Disciplines
Medicine and Health Sciences
PubMedID
8452585
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article