Abstract
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.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Elejalde B. R., de Elejalde M. M. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet. 1983 Feb;14(2):353–359. doi: 10.1002/ajmg.1320140215. [DOI] [PubMed] [Google Scholar]
- Grobler-Rabie A. F., Wallis G., Brebner D. K., Beighton P., Bester A. J., Mathew C. G. Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J. 1985 Jul;4(7):1745–1748. doi: 10.1002/j.1460-2075.1985.tb03845.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ogilvie D. J., Aitchison K., Sykes B. C. An RFLP close to the human collagen I gene COL1A1. Nucleic Acids Res. 1987 Jun 11;15(11):4699–4699. doi: 10.1093/nar/15.11.4699. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ogilvie D. J., Wordsworth B. P., Priestley L. M., Dalgleish R., Schmidtke J., Zoll B., Sykes B. C. Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet. 1987 Dec;41(6):1071–1082. [PMC free article] [PubMed] [Google Scholar]
- Sillence D. O. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci. 1988;543:1–15. doi: 10.1111/j.1749-6632.1988.tb55311.x. [DOI] [PubMed] [Google Scholar]
- Sillence D. O., Senn A., Danks D. M. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101–116. doi: 10.1136/jmg.16.2.101. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sykes B., Ogilvie D., Wordsworth P., Anderson, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 1986 Jul 12;2(8498):69–72. doi: 10.1016/s0140-6736(86)91609-0. [DOI] [PubMed] [Google Scholar]
- Sykes B., Ogilvie D., Wordsworth P., Wallis G., Mathew C., Beighton P., Nicholls A., Pope F. M., Thompson E., Tsipouras P. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet. 1990 Feb;46(2):293–307. [PMC free article] [PubMed] [Google Scholar]
- Sykes B. The molecular genetics of collagen. Bioessays. 1985 Sep;3(3):112–117. doi: 10.1002/bies.950030306. [DOI] [PubMed] [Google Scholar]
- Thompson E. M., Young I. D., Hall C. M., Pembrey M. E. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet. 1987 Jul;24(7):390–405. doi: 10.1136/jmg.24.7.390. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tsipouras P., Myers J. C., Ramirez F., Prockop D. J. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest. 1983 Oct;72(4):1262–1267. doi: 10.1172/JCI111082. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Young I. D., Thompson E. M., Hall C. M., Pembrey M. E. Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J Med Genet. 1987 Jul;24(7):386–389. doi: 10.1136/jmg.24.7.386. [DOI] [PMC free article] [PubMed] [Google Scholar]