【摘要】 目的对1例复发性血栓患者及其家系成员进行抗凝血酶和蛋白C基因突变检测。方法采用发色底物法检测先证者及其家系成员血浆A T活性和PC活性,采用PCR法对先证者及其家系成员AT基因的7个外显子及其侧翼内含子序列和PC基因的9个外显子和8个内含子序列分别进行扩增,PCR产物纯化后直接测序检测基因突变。结果全基因组测序显示,包括先证者在内共计3位家族成员蛋白C基因565位点存在基因突变。生化检测显示,携带565位点基因突变的家族成员,其蛋白C活性均下降。结论考虑蛋白C基因565位点基因突变是复发性血栓事件的易感因素。更多还原

【Abstract】 Objective To detect the mutations of antithrombin and protein C gene in a patient with recurrent thrombosis and its family members. Methods The plasma AT activity and PC activity of probands and their family members were detected by chromogenic substrate method. The seven exons and their flanking intron sequences of the AT gene of proband and their family members were detected by PCR. The 9 exons and 8 intron sequences of the PC gene were amplified separately, and the PCR products were purified and directly sequenced to detect gene mutations. Results Whole-genome sequencing showed that there were a total of 3 mutations in the protein 565 gene of the family member, including the proband. Biochemical tests showed that family members carrying mutations in the 565 locus had decreased protein C activity. Conclusion Considering the mutation of protein 565 gene 565 is a predisposing factor for recurrent thrombotic events.更多还原