Article Text

PDF

Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.
  1. S H Sacks,
  2. J M Old,
  3. S T Reeders,
  4. D J Weatherall,
  5. A S Douglas,
  6. J H Winter,
  7. C R Rizza
  1. Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford.

    Abstract

    Using DNA probes in a structural study of the antithrombin III gene locus we found no evidence of gene deletion in two British kindreds with inherited antithrombin III deficiency. However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. The lod score for linkage within the larger Scottish kindred was 3.1 (theta = 0). These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families.

    Statistics from Altmetric.com

    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.