Partial protein S gene deletion in a family with hereditary thrombophilia

Content Provider	Scilit
Author	Amstel, Hk Ploos Van Huisman, Mv Reitsma, Ph Cate, J. Wouter Ten Bertina, Rm
Copyright Year	1989
Description	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.
Related Links	https://ashpublications.org/blood/article-pdf/73/2/479/214689/479.pdf
Ending Page	483
Page Count	5
Starting Page	479
DOI	10.1182/blood.v73.2.479.bloodjournal732479
Journal	Blood
Issue Number	2
Volume Number	73
Language	English
Publisher	American Society of Hematology
Publisher Date	1989-02-01
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Families Antigen Hereditary Thrombophilia Abnormal Deletion Protein S Deficiency Probands Protein S Gene Journal: Blood (Vol- 54, Issue- 2)
Content Type	Text
Resource Type	Article