Protein S Deficiency: A Database of Mutations – Summary of the First Update
Protein S Deficiency: A Database of Mutations – Summary of the First Update
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蛋白质 S 缺乏症：突变数据库 – 第一次更新摘要
DOI：
10.1055/s-0037-1614137
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发表时间：
2000
影响因子：
6.7
通讯作者：
Martine Aiach
中科院分区：
文献类型：
--
作者：
S. Gandrille;Delphine Borgel;N. Sala;Y. Espinosa;R. Simmonds;S. Rezende;B. Lind;C. Mannhalter;Ingrid Pabinger;P. Reitsma;C. Formstone;D. Cooper;H. Saito;Koji Suzuki;F. Bernardi;Martine Aiach
蛋白S是一种维生素K依赖性蛋白，其遗传缺陷是静脉血栓形成的公认危险因素。其作用是在因子Va和VIIIa蛋白水解中作为活化的蛋白C辅因子，从而限制凝血酶的产生。它的基因位于3号染色体上的3p11.1-q11.2位置，其结构组织已被描述。对蛋白S缺乏症的基因缺陷的阐明正在迅速进行。1996年在国际血栓形成和止血学会科学和标准化委员会（ISTH SSC）的赞助下进行了鉴定突变的第一次记录，并于1997年发表（Thromb Haemost 1997; 77：1201-14）。第一个数据库报告了在126名蛋白S缺陷受试者中鉴定出的假定为有害的突变，以及19种被认为是中性多态性的突变。Bertina在1991年小组委员会会议上提出的分类用于根据在缺陷受试者中观察到的表型对突变进行分类，即当游离和总PS抗原水平均降低时为I型，当游离PS水平降低而总PS抗原水平正常时为III型，当PS的辅因子活性降低而总抗原和游离抗原水平在正常范围内时为II型。
Protein S is a vitamin K dependent protein whose inherited deficiency is a well recognized risk factor for venous thrombosis. Its role is to act as activated protein C cofactor in factor Va and VIIIa proteolysis, thus restricting thrombin generation. Its gene lies on chromosome 3, at position 3p11.1-q11.2, and its structural organization has been described. Elucidation of the gene defects responsible for protein S deficiency is proceeding rapidly. A first record of identified mutations was undertaken in 1996 under the auspices of the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee (ISTH SSC) and was published in 1997 (Thromb Haemost 1997; 77: 1201-14). This first database reported mutations identified in 126 protein S-deficient subjects postulated to be detrimental, and 19 mutations that were considered as neutral polymorphisms. The classification proposed by Bertina at the subcommittee meeting in 1991 was used to classify the mutations according to the phenotype observed in deficient subjects, that is type I when both free and total PS antigen levels were decreased, type III when free PS levels were decreased with normal total PS antigen levels, and type II when cofactor activity of PS was decreased while total and free antigen levels were within the normal ranges.