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.
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.
Authors: A G Uitterlinden; H Burger; Q Huang; E Odding; C M Duijn; A Hofman; J C Birkenhäger; J P van Leeuwen; H A Pols Journal: J Clin Invest Date: 1997-07-15 Impact factor: 14.808
Authors: K Chapman; Z Mustafa; C Irven; A J Carr; K Clipsham; A Smith; J Chitnavis; J S Sinsheimer; V A Bloomfield; M McCartney; O Cox; L R Cardon; B Sykes; J Loughlin Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025
Authors: Arturo Gálvez-Rosas; Celia González-Huerta; Verónica Marusa Borgonio-Cuadra; Carolina Duarte-Salazár; Lorena Lara-Alvarado; María de los Angeles Soria-Bastida; Socorro Cortés-González; Eva Ramón-Gallegos; Antonio Miranda-Duarte Journal: Rheumatol Int Date: 2009-09-16 Impact factor: 2.631