دورية
Partial protein S gene deletion in a family with hereditary thrombophilia
| العنوان: | Partial protein S gene deletion in a family with hereditary thrombophilia |
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| المؤلفون: | Ploos van Amstel, HK, Huisman, MV, Reitsma, PH, Wouter ten Cate, J, Bertina, RM |
| المصدر: | Blood; February 1989, Vol. 73 Issue: 2 p479-483, 5p |
| مستخلص: | 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. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 00064971 15280020 |
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| DOI: | 10.1182/blood.V73.2.479.479 |