{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:52:28Z","timestamp":1781106748301,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"16","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:p>Achondroplasia is an autosomal dominant disorder that involves defective endochondral bone formation. Type II collagen is the predominant collagen of cartilage. We found a HindIII polymorphic site in the normal Caucasian population by using the type II procollagen gene probe pgHCol(II)A. The presence of this site yields a 7.0-kilobase (kb) band; its absence yields a 14.0-kb band. We found a significant deviation in genotype distribution and allele frequencies in a population of unrelated individuals with sporadic achondroplasia, compared with the normal control population. The HindIII genotype frequencies in 32 individuals with achondroplasia are 0.41 for the 7\/7 genotype (controls, 0.08), 0.34 for the 7\/14 genotype (controls, 0.54), and 0.25 for the 14\/14 genotype (controls, 0.37). The apparent equilibrium excess of the \"7\" allele in individuals with achondroplasia may reflect either a predisposition for the mutation that causes achondroplasia or it could be the result of the achondroplasia-causing mutation. In either case, these findings suggest an association of the type II procollagen gene with achondroplasia.<\/jats:p>","DOI":"10.1073\/pnas.82.16.5465","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T05:44:25Z","timestamp":1149054265000},"page":"5465-5469","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":10,"title":["Nonrandom association of a type II procollagen genotype with achondroplasia."],"prefix":"10.1073","volume":"82","author":[{"given":"C E","family":"Eng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Pauli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1985,8]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.82.16.5465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T12:01:42Z","timestamp":1649851302000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.82.16.5465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":0,"journal-issue":{"issue":"16","published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1073\/pnas.82.16.5465"],"URL":"https:\/\/doi.org\/10.1073\/pnas.82.16.5465","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]},"assertion":[{"value":"1985-08-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}