Ye Xu, Liu Xiao-li, Feng Ying, Zhou Xu-hong, Xing Zhi-fang
Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2011 Jun;31(7):1228-31.
To analyze the molecular pathogenesis of protein S deficiency in an adolescent case of recurrent deep vein thrombosis (DVT).
Blood samples from the patient and his family members were collected for detection of the coagulation parameters by one-step clotting method, and the protein S (PS) and protein C activities were measured by a chromogenic assay. Enzyme-linked immunosorbent assay was employed for detecting the levels of free PS antigen. All the exons and exon-intron boundaries of the patients PS gene were amplified using PCR and analyzed by direct sequencing.
As carriers of hereditary PS deficiency, both the patient and his father showed a heterozygous C82792T point mutation in the 10th exon of their PS gene which resulted in the substitution of arginine314 by cysteine in the polypeptide chain of PS protein.
Recurrence of DVT in this patient is the result of hereditary PS deficiency caused by a novel heterozygous missense mutation in the PS gene.
分析一名复发性深静脉血栓形成（DVT）青少年病例中蛋白S缺乏的分子发病机制。
采集患者及其家庭成员的血液样本，采用一步凝固法检测凝血参数，用发色底物法测定蛋白S（PS）和蛋白C活性。采用酶联免疫吸附测定法检测游离PS抗原水平。利用聚合酶链反应（PCR）扩增患者PS基因的所有外显子和外显子-内含子边界，并通过直接测序进行分析。
作为遗传性PS缺乏的携带者，患者及其父亲的PS基因第10外显子均显示杂合性C82792T点突变，该突变导致PS蛋白多肽链中的精氨酸314被半胱氨酸取代。
该患者DVT复发是由PS基因中一种新的杂合错义突变导致的遗传性PS缺乏所致。
