{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:24:45Z","timestamp":1789388685198,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,12,9]],"date-time":"2005-12-09T00:00:00Z","timestamp":1134086400000},"content-version":"vor","delay-in-days":3814,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis & Rheumatism"],"published-print":{"date-parts":[[1995,7]]},"abstract":"Abstract<\/jats:title>Objective<\/jats:italic>. To use a recently developed procedure for analysis of blood leukocyte DNA to detect mutations in the gene for type II procollagen (COL2A1) in patients with cartilage diseases ranging from early\u2010onset familial osteoarthritis (OA) to lethal chondrodysplasias.<\/jats:p>Methods<\/jats:italic>. The technique of denaturing gradient gel electrophoresis was used to scan polymerase chain reaction (PCR) products from 45 exons and exonflanking sequences of the COL2A1 gene in more than 70 patients with cartilage diseases whose severity ranged from mild to lethal. PCR products with abnormal migrations were then sequenced.<\/jats:p>Results<\/jats:italic>. Among the 3 patients with lethal hypochondrogenesis who were analyzed, all 3 were found to have a mutation in the COL2A1 gene. Among 17 patients with spondyloepiphyseal or spondyloepimetaphyseal dysplasia, 2 well\u2010defined and 2 probable mutations were found. Among 15 patients with the Wagner\u2010Stickler syndrome, 2 well\u2010defined and 2 probable mutations were found. Among 45 patients with early\u2010onset familial OA, 1 probable mutation was found.<\/jats:p>Conclusion<\/jats:italic>. Using the procedure developed for analysis of the COL2A1 gene, mutations were detected in >20% of patients with chondrodysplasias and up to 2% of patients with early\u2010onset familial OA. However, these percentages are only minimal estimates because all possible mutations in the gene cannot be detected with this procedure.<\/jats:p>","DOI":"10.1002\/art.1780380717","type":"journal-article","created":{"date-parts":[[2007,2,15]],"date-time":"2007-02-15T02:04:37Z","timestamp":1171505077000},"page":"999-1004","source":"Crossref","is-referenced-by-count":56,"title":["Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis"],"prefix":"10.1002","volume":"38","author":[{"given":"Pertti","family":"Ritvaniemi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarmo","family":"K\u00f6rkk\u00f6","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacky","family":"Bonaventure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petteri","family":"Paassilta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkka","family":"Kaitila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"K\u00e4\u00e4ri\u00e4inen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris 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dysplasia","volume":"268","author":"Chan D","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0493-323"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1306"},{"key":"e_1_2_1_8_2","volume-title":"Harrison's Principles of Internal Medicine","author":"Prockop DJ","year":"1993"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"13663","DOI":"10.1016\/S0021-9258(17)36881-3","article-title":"A mutation in the COL2A1 gene in a patient with hypochondrogenesis: expression of the mutated COL2A1 gene is accompanied by expression of the genes for type I procollagen in chondrocytes","volume":"269","author":"Freisinger P","year":"1994","journal-title":"J Biol 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type II procollagen (COL2A1) that substitutes aspartate for glycine \u03b11\u201067 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro\u2010ophthalmopathy)","volume":"53","author":"K\u00f6rkk\u00f6 J","year":"1993","journal-title":"Am J Hum Genet"}],"container-title":["Arthritis & 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