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

Abstract

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.

• Authors: H K Ploos van Amstel, M V Huisman, P H Reitsma, J Wouter ten Cate, R M Bertina
• Journal: Blood (Blood) Vol. 73 Issue 2 Pg. 479-83 (Feb 1989) ISSN: 0006-4971 [Print] United States
• PMID: 2521801 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes
• Glycoproteins
• Protein S

Topics

• DNA Mutational Analysis
• DNA Probes
• Glycoproteins (blood, deficiency, genetics)
• Humans
• Male
• Middle Aged
• Molecular Weight
• Nucleic Acid Hybridization
• Pedigree
• Protein S
• Thrombosis (genetics)