{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:13Z","timestamp":1760766013580,"version":"build-2065373602"},"reference-count":30,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,10]]},"abstract":"<jats:p>We have analysed six South African families with osteogenesis imperfecta type I using three DNA polymorphisms associated with the pro alpha 2(I) collagen gene. In four of these families linkage of the pro alpha 2(I) gene and the osteogenesis imperfecta phenotype was suggested, whereas in the remaining two families there was a lack of linkage. No distinct correlation could be made between the phenotypic features of the families studied and linkage or lack of linkage to the pro alpha 2(I) gene. Two different haplotypes were found to be associated with the mutant pro alpha 2(I) alleles. These findings suggest that molecular heterogeneity exists within osteogenesis imperfecta type I and that in a significant proportion of cases the defect is linked to the pro alpha 2(I) gene.<\/jats:p>","DOI":"10.1136\/jmg.23.5.411","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"411-416","source":"Crossref","is-referenced-by-count":18,"title":["Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I."],"prefix":"10.1136","volume":"23","author":[{"given":"G","family":"Wallis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C G","family":"Mathew","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,10,1]]},"reference":[{"key":"ref_1","article-title":"The brittle bone syndrome","author":"Smith, R.; Francis, M.; Houghton, G.","year":"1983","unstructured":"Smith R, Francis M, Houghton G. The brittle bone syndrome. London: Butterworths, 1983."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"21206","article-title":"Hearing and middle ear function in osteogenesis imperfecta","volume":"247","author":"Shapiro, JR, Pikus; A, Weiss; G, Rowe; D.W.","year":"1982","unstructured":"Shapiro JR, Pikus A, Weiss G, Rowe DW. Hearing and middle ear function in osteogenesis imperfecta. 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Type I osteogenesis imperfecta: a non-functional allele for pro al(I) chains of type I procollagen. Proc Natl Acad Sci USA 1982;79:3838-42."},{"issue":"23","key":"ref_12","first-page":"13","article-title":"Osteogenesis imperfecta (01) type IV: a mutation in pro a2(I) produces an unstable type I collagen","volume":"36","author":"Wenstrup, R.J.; Tsipouras, P.; Byers, P.H.","year":"1984","unstructured":"Wenstrup RJ, Tsipouras P, Byers PH. Osteogenesis imperfecta (01) type IV: a mutation in pro a2(I) produces an unstable type I collagen. Am J Hum Genet 1984;36:23S. 13 Tsipouras P, Borrenson AL, Dickson LA, Berg K, Prockop DJ, Ramirez F. Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. 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EMBO J 1985;4:1745-8.","journal-title":"EMBO J"},{"key":"ref_14","first-page":"1261","article-title":"Restriction fragment length polymorphisms associated with the pro a2(I) gene of human type I collagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta","volume":"72","author":"Tsipouras, P.; Myers, J.L.; Ramirez, F.; Prockop, D.J.","year":"1983","unstructured":"Tsipouras P, Myers JL, Ramirez F, Prockop DJ. Restriction fragment length polymorphisms associated with the pro a2(I) gene of human type I collagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. 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J Med Genet 1984;21:164-72.","journal-title":"J Med Genet"},{"key":"ref_17","first-page":"3516","article-title":"Cloning a cDNA for the pro a2 chain of human","volume-title":"type I collagen. Proc Natl Acad Sci","volume":"78","author":"Myers, J.C.; Chu, M.L.; Faro, S.M.; Clark, W.J.; Prockop, D.J.; Ramirez, F.","year":"1981","unstructured":"Myers JC, Chu ML, Faro SM, Clark WJ, Prockop DJ, Ramirez F. Cloning a cDNA for the pro a2 chain of human type I collagen. Proc Natl Acad Sci USA 1981;78:3516-20."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1021\/bi00274a023","article-title":"Structure of a cDNA for the pro a2(I) chain of human type I procollagen. Comparison with chick cDNA for pro a2(I) identifies structurally conserved features of the protein and gene","volume":"22","author":"Bernard, M.P.; Myers, K.C.; Chu, M.L.; Ramirez, F.; Eikenberry, E.F.; Prockop, D.J.","year":"1983","unstructured":"Bernard MP, Myers KC, Chu ML, Ramirez F, Eikenberry EF, Prockop DJ. Structure of a cDNA for the pro a2(I) chain of human type I procollagen. Comparison with chick cDNA for pro a2(I) identifies structurally conserved features of the protein and gene. Biochemistry 1983;22:1139-45.","journal-title":"Biochemistry"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/1523-1747.ep12260213","article-title":"Isolation and characterisation of a human pro a2(I) collagen gene segment","volume":"82","author":"Tajima, S.; Ting, J.P.Y.; Pinnell, SR, Kaufman; R.E.","year":"1984","unstructured":"Tajima S, Ting JPY, Pinnell SR, Kaufman RE. Isolation and characterisation of a human pro a2(I) collagen gene segment. J Invest Dermatol 1984;82:265-9.","journal-title":"J Invest Dermatol"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1159\/000131978","article-title":"Localization of the human pro a2(I) collagen gene (COLIA2) to chromosome 7q22","volume":"36","author":"Henderson, A.S.; Myers, J.C.; Ramirez, F.","year":"1983","unstructured":"Henderson AS, Myers JC, Ramirez F. Localization of the human pro a2(I) collagen gene (COLIA2) to chromosome 7q22. Cytogenet Cell Genet 1983;36:586-7.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"13816","DOI":"10.1016\/S0021-9258(18)33521-X","article-title":"Copynumber of human type I a2 collagen gene","volume":"257","author":"Dalgleish, R.; Trapnell, B.C.; Crystal, R.G.; Tolstoshev, P.","year":"1982","unstructured":"Dalgleish R, Trapnell BC, Crystal RG, Tolstoshev P. Copynumber of human type I a2 collagen gene. J Biol Chem 1982;257:13816-22.","journal-title":"J Biol Chem"},{"key":"ref_22","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott, J.","year":"1974","unstructured":"Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 1974;26:588-97.","journal-title":"Am J Hum Genet"},{"key":"ref_23","first-page":"1","article-title":"Blood group gene frequencies. An indication of the genetic constitution of population samples in Cape Town","volume":"1","author":"Botha, M.C.; Pritchard, J.","year":"1972","unstructured":"Botha MC, Pritchard J. Blood group gene frequencies. An indication of the genetic constitution of population samples in Cape Town. 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Blood 1984;63:738-58.","journal-title":"Blood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.5.411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:59:34Z","timestamp":1760763574000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.5.411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,10]]},"references-count":30,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1986,10,1]]},"published-print":{"date-parts":[[1986,10]]}},"alternative-id":["10.1136\/jmg.23.5.411"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.5.411","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,10]]}}}