{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:23:40Z","timestamp":1760189020978,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,2]]},"abstract":"<jats:p>The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discordant segregation between the achondroplasia and COL2A1 loci was demonstrated. Paternity\/maternity was confirmed using a 'minisatellite' core sequence probe which reveals cross hybridising polymorphic loci.<\/jats:p>","DOI":"10.1136\/jmg.23.1.19","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"19-22","source":"Crossref","is-referenced-by-count":23,"title":["Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia."],"prefix":"10.1136","volume":"23","author":[{"given":"D","family":"Ogilvie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Wordsworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Sykes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.1977.tb01274.x","article-title":"A new estimate of the achondroplasia mutation rate","volume":"11","author":"Gardner, R.J.M.","year":"1977","unstructured":"Gardner RJM. A new estimate of the achondroplasia mutation rate. Clini Geniet 1977;11:31-8.","journal-title":"Clini Geniet"},{"key":"ref_2","first-page":"312","article-title":"Parental agc and mutation","volume":"1955","author":"Penrose, L.S.","unstructured":"Penrose LS. Parental agc and mutation. Lantcet 1955:ii:312.","journal-title":"Lantcet"},{"key":"ref_3","first-page":"287","article-title":"Genetic.s, evolution atid inan","author":"LL, Bodmer W.F.Cavalli-Sforza","year":"1976","unstructured":"Bodmer WF. Cavalli-Sforza LL. Genetic.s, evolution atid inan. San Francisco: Freeman. 1976:287-94."},{"issue":"83","key":"ref_4","first-page":"7","article-title":"Endochondral ossificaition in achondroplastic dwarfism","volume":"1970","author":"Rimoin, D.L.; hlughcs GN; Kaufman, R.L.; Wil, Rosenthal R.E.McAllister; Silherherg, R.","unstructured":"Rimoin DL, hlughcs GN, Kaufman RL, Rosenthal RE. McAllister Wil, Silherherg R. Endochondral ossificaition in achondroplastic dwarfism. 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Birth IDefects 1975; 11:227-30.","journal-title":"Birth IDefects"},{"key":"ref_9","first-page":"187","article-title":"Achondroplasia due to DNA insertion into the typc II collagen gene. Pediatr Res 1984; 18: 226A. \" Strom","volume":"22","author":"Strom, C.M.","year":"1985","unstructured":"Strom CM. Achondroplasia due to DNA insertion into the typc II collagen gene. Pediatr Res 1984;18:226A. \" Strom CM, Eng CEL, Christides T, Belles C, Pauli R. Detection of gene deletions in the human type II procollagen gene in 8 patients with achondroplasia using gene dosage analysis. Pediatr Res 1985;19:254A. 12Sykes BC. A high frequcncy Hind III restriction site polymorphism within a collagen gene. Disease Markers 1983;1:141-6. '-Sykes B, Smith R, Vipond S, Paterson C, Cheah K, Solomon E. Exclusion of the al(ll) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. 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