{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:27Z","timestamp":1792166787419,"version":"4.4.0"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,3]]},"abstract":"<jats:p>Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in chorionic villus samples both in families where the linkage can be independently shown and in those where it cannot. Especially in the latter category, calculation of the final risk must incorporate an estimate of genetic heterogeneity within the OI population to give a prior probability of linkage. This figure can then be modified for each family by additional information from concordant meioses.<\/jats:p>","DOI":"10.1136\/jmg.28.3.145","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"145-150","source":"Crossref","is-referenced-by-count":11,"title":["Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele."],"prefix":"10.1136","volume":"28","author":[{"given":"J R","family":"Lynch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Ogilvie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Priestley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Baigrie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Farndon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Sykes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,3,1]]},"reference":[{"issue":"1","key":"ref_1","first-page":"17","article-title":"Osteogenesis imperfecta: the molecular basis of clinical heterogeneity","volume":"543","author":"Byers, P.H.; Bonadio, J.F.; Cohn, D.H.","year":"1988","unstructured":"Byers PH, Bonadio JF, Cohn DH, et al. Osteogenesis imperfecta: the molecular basis of clinical heterogeneity. Ann NY Acad Sci 1988;543:1 17-28.","journal-title":"Ann NY Acad Sci"},{"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","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1136\/jmg.24.7.386","article-title":"Osteogenesis imperfecta type IIA: evidence for dominant inheritance","volume":"24","author":"Young, I.D.; Thompson, E.M.; Hall, C.M.; Pembrey, M.E.","year":"1987","unstructured":"Young ID, Thompson EM, Hall CM, Pembrey ME. Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J7 Med Genet 1987;24:386-9.","journal-title":"J7 Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.24.7.390","article-title":"Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta","volume":"24","author":"Thompson, E.M.; Young, I.D.; Hall, C.M.; Pembrey, M.E.","year":"1987","unstructured":"Thompson EM, Young ID, Hall CM, Pembrey ME. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. Jf Med Genet 1987;24:390-405.","journal-title":"Jf Med Genet"},{"key":"ref_5","first-page":"112","volume-title":"The molecular genetics of collagen. Bioessays 1985; 3","author":"Sykes, B.C.","unstructured":"Sykes BC. The molecular genetics of collagen. Bioessays 1985;3: 112-7."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/ajmg.1320140215","article-title":"Prenatal diagnosis of perinatally lethal osteogenesis imperfecta","volume":"14","author":"Elejalde, B.R.; Elejalde, M.M.","year":"1983","unstructured":"Elejalde BR, Elejalde MM. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. AmJ Med Genet 1983;14:353-9.","journal-title":"AmJ Med Genet"},{"key":"ref_7","first-page":"117","article-title":"Prenatal diagnosis of lethal perinatal osteogenesis imperfecta","volume":"0","author":"Shapiro, J.E.; Phillips JA, III, Byers; P.H.","year":"1982","unstructured":"Shapiro JE, Phillips JA III, Byers PH, et al. Prenatal diagnosis of lethal perinatal osteogenesis imperfecta. 7 Pediatr 1982;l00: 117-33."},{"key":"ref_8","first-page":"1262","article-title":"Restriction fragment length polymorphism associated with the pro-ct2 (1) gene ofhuman type I procollagen","volume":"72","author":"Tsipouras, P.; Myers, J.C.; Ramirez, F.; Prockop, D.J.","year":"1983","unstructured":"Tsipouras P, Myers JC, Ramirez F, Prockop DJ. Restriction fragment length polymorphism associated with the pro-ct2 (1) gene ofhuman type I procollagen.J ClinInvest 1983;72:1262-7.","journal-title":"J ClinInvest"},{"key":"ref_9","first-page":"1745","article-title":"Detection of a high frequency RsaI polymorphism in the human pro-a2 (1) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta","volume":"7","author":"Grobler-Rabie, A.F.; Wallis, G.; Brebner, D.K.; Beighton, P.; Mathew, C.G.","year":"1985","unstructured":"Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Mathew CG. Detection of a high frequency RsaI polymorphism in the human pro-a2 (1) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J7 1985;4: 1745-8.","journal-title":"EMBO"},{"key":"ref_10","first-page":"69","article-title":"Osteogenesis imperfecta is linked to both type I collagen structural genes","volume":"ii:","author":"Sykes, B.C.; Ogilvie, D.J.; Wordsworth, B.P.; Anderson, D.J.; Jones, N.","year":"1986","unstructured":"Sykes BC, Ogilvie DJ, Wordsworth BP, Anderson DJ, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986;ii:69-72.","journal-title":"Lancet"},{"key":"ref_11","first-page":"293","article-title":"Consistent linkage of dominantly-inherited osteogenesis imperfecta to the type I collagen loci: COLlAI and COLIA2","volume":"46","author":"Sykes, B.C.; Ogilvie, D.J.; Wordsworth, B.P.","year":"1990","unstructured":"Sykes BC, Ogilvie DJ, Wordsworth BP, et al. Consistent linkage of dominantly-inherited osteogenesis imperfecta to the type I collagen loci: COLlAI and COLIA2. Am J Hum Genet 1990;46:293-307.","journal-title":"Am J Hum Genet"},{"key":"ref_12","first-page":"1071","article-title":"Segregation of all four fibrillar collagen genes in the Marfan syndrome","volume":"41","author":"Ogilvie, D.J.; Wordsworth, B.P.; Zoll, B.; Schmitke, J.; Dalgleish, R.; Sykes, B.C.","year":"1987","unstructured":"Ogilvie DJ, Wordsworth BP, Zoll B, Schmitke J, Dalgleish R, Sykes BC. Segregation of all four fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet 1987;41:1071-82.","journal-title":"Am J Hum Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4699","DOI":"10.1093\/nar\/15.11.4699","article-title":"An RFLP close to the human collagen gene COLlAI","volume":"15","author":"Ogilvie, D.J.; Aitchison, K.; Sykes, B.C.","year":"1987","unstructured":"Ogilvie DJ, Aitchison K, Sykes BC. An RFLP close to the human collagen gene COLlAI. 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