Article Text

Download PDFPDF
Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.
  1. J R Lynch,
  2. D Ogilvie,
  3. L Priestley,
  4. C Baigrie,
  5. R Smith,
  6. P Farndon,
  7. B Sykes
  1. University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, Headington.


    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.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.