Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan.
Thromb Res. 2010 Jun;125(6):529-32. doi: 10.1016/j.thromres.2009.12.025. Epub 2010 Feb 23.
A protein S (PS) abnormality is a hereditary risk factor for thromboembolism. A 33-year-old female had a left deep vein thrombosis (DVT) and mild pulmonary embolism (PE). Her PS antigen level was 34.7% and the activity level was less than 10%. Genetic analysis identified three missense mutations in PS: the D38Y mutation in exon 3, and the T589I mutation and P626L mutations in exon 15. The D38Y mutation has not been reported previously. An analysis of the patient's family revealed that all members of the family had some PS gene mutation. The D38Y and T589I mutations were both in same allele, the P626L mutation was in another allele. The expression of PS mutations in COS-7 cells revealed that PS activity and antigen were markedly decreased in the D38Y mutation but not in the T589I mutation. The expression of the P626L mutation in baby hamster kidney (BHK) cells showed the PS activity and antigen to be markedly decreased in comparison to the wild type.
蛋白质 S（PS）异常是血栓栓塞的遗传性危险因素。一名 33 岁女性患有左侧深静脉血栓形成（DVT）和轻度肺栓塞（PE）。她的 PS 抗原水平为 34.7%，活性水平低于 10%。基因分析确定了 PS 中的三个错义突变：第 3 外显子中的 D38Y 突变，以及第 15 外显子中的 T589I 突变和 P626L 突变。D38Y 突变以前尚未报道过。对患者家族的分析表明，该家族所有成员均存在某些 PS 基因突变。D38Y 和 T589I 突变位于同一等位基因上，P626L 突变位于另一个等位基因上。在 COS-7 细胞中 PS 突变的表达表明，D38Y 突变显著降低了 PS 活性和抗原，但 T589I 突变则没有。在幼仓鼠肾（BHK）细胞中表达 P626L 突变时，与野生型相比，PS 活性和抗原明显降低。
