Partial protein S gene deletion in a family with hereditary thrombophilia.

Familial thrombophilia, the hereditary predisposition to venous thromboembolic disease, is associated with a protein S deficiency in approximately 8% of the cases. Laboratory measurements of total protein S antigen in affected families have indicated that heterozygotes, ie, individuals carrying both a normal and a defective protein S gene, are severely at risk of developing venous thrombosis at a young age. The recent isolation of protein S cDNA has enabled us to start a search for genetic defects in the protein S gene of heterozygotes. Using Southern blotting on probands of six unrelated families with hereditary protein S deficiency, one proband was found to have a grossly abnormal gene pattern. The abnormality appears to involve at least the deletion of the middle portion of the protein S coding sequence. Family analysis showed that the defect cosegregates with the protein S deficiency. These data agree with the notion that hereditary thrombophilia associated with protein S deficiency is indeed directly the result of a defect in the protein S gene.
AuthorsH K Ploos van Amstel, M V Huisman, P H Reitsma, J Wouter ten Cate, R M Bertina
JournalBlood (Blood) Vol. 73 Issue 2 Pg. 479-83 (Feb 1989) ISSN: 0006-4971 [Print] UNITED STATES
PMID2521801 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA Probes
  • Glycoproteins
  • Protein S
  • DNA Mutational Analysis
  • DNA Probes
  • Glycoproteins (blood, deficiency, genetics)
  • Humans
  • Male
  • Middle Aged
  • Molecular Weight
  • Nucleic Acid Hybridization
  • Pedigree
  • Protein S
  • Thrombosis (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: