Partial protein S gene deletion in a family with hereditary thrombophilia.
Partial protein S gene deletion in a family with hereditary thrombophilia.
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遗传性血栓形成倾向家族中蛋白质 S 基因部分缺失。
DOI：
10.1182/blood.v73.2.479.479
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发表时间：
1989
期刊：
影响因子：
20.3
通讯作者：
R. Bertina
中科院分区：
文献类型：
--
作者：
Hans K. Ploos van Amstel;M. Huisman;P. Reitsma;J. W. T. Cate;R. Bertina
家族性血栓形成倾向是静脉血栓栓塞性疾病的遗传易感性，约8%的病例与蛋白S缺乏有关。实验室测量的总蛋白S抗原在受影响的家庭表明，杂合子，即携带一个正常的和一个有缺陷的蛋白S基因的个人，是严重的风险发展静脉血栓形成在一个年轻的年龄。最近分离的蛋白S cDNA使我们能够开始寻找杂合子蛋白S基因的遗传缺陷。对6个遗传性蛋白S缺乏症家系的先证者进行Southern杂交，发现1个先证者存在明显异常的基因型。该异常似乎至少涉及蛋白S编码序列的中间部分的缺失。家系分析表明，该缺陷与蛋白S缺乏共分离。这些数据同意这样的观点，即与蛋白S缺乏相关的遗传性血栓形成倾向确实是蛋白S基因缺陷的直接结果。
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.