Summary
In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aylsworth AS, Seeds JW, Guilford WB, Burns CB, Washburn DB (1984) Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta. Am J Med Genet 19:707–714
Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, Bester AJ, Mathew CGP, Boyd CD (1985a) Polymorphism of DNA sequence in the pro-alpha-2(1) collagen gene. J Med Genet 22:182–186
Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Bester AJ, Mathew CG (1985b) Detection of a high frequency Rsa 1 polymorphism in the human pro-alpha-2(1) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 4:1745–1748
Jeffreys AJ, Wilson V, Thein SL (1985) Individual-specific “fingerprints” of human DNA. Nature 316:76–79
McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. Mosby, St Louis, Mo
Ogilvie DJ, Aitchison KJ, Sykes BC (1987) An RFLP close to the human collagen I gene COL1A1. Nucleic Acids Res 15:4699
Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, Prockop DJ, Myers JC (1984) Osteogenesis imperfecta: cloning of a pro-alpha-2(1) collagen with a frameshift mutation. J Biol Chem 259:12941–12944
Pinell SR, Krane SM, Kenzora JE, Glimcher MJ (1972) A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med 286:1013–1020
Robinson P, Worthen NJ, Lachman RS, Adomian GE, Rimoin DL (1987) Prenatal diagnosis of osteogenesis imperfecta type III. Prenat Diagn 7:7–15
Smith R, Francis MJO, Houghton GR (1983) The brittle bone syndrome. Butterworths, London
Sykes BC, Smith R (1985) Collagen and collagen gene disorders. Q J Med 56:533–547
Sykes BC, Francis MJO, Smith R (1977) Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med 296:1200–1203
Sykes BC, Ogilvie DJ, Wordsworth BP (1985) Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation. Hum Genet 70:35–37
Sykes BC, Ogilvie DJ, Wordsworth BP, Anderson J, Jones N (1986) Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet II:69–72
Thompson EM, Young ID, Hall CM, Pembrey ME (1987) Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390–405
Tsipouras P, Myers JC, Ramirez F, Prockop DJ (1983) Restriction fragment length polymorphism associated with the pro-alpha-2(1) gene of human type 1 procollagen. J Clin Invest 72:1262–1267
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Aitchison, K., Ogilvie, D., Honeyman, M. et al. Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet 78, 233–236 (1988). https://doi.org/10.1007/BF00291667
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291667