低纤维蛋白原血症患者中发现一种新的γ链Asp316His突变  

A novel point mutation(Asp316His)in γ chain of fibrinogen found in one patient with hypofibrinogenemia

作　　者：徐鹏飞[1] 王明山[1] 谢海啸[1] 金艳慧[1] 牛真珍[1] 郑芳秀[1] 朱丽青[1] 

机构地区：[1]温州医学院附属第一医院实验诊断中心,浙江温州325000

出　　处：《温州医学院学报》2011年第4期346-348,共3页Journal of Wenzhou Medical College

基　　金：温州市科技局科研基金资助项目(Y20100284)

摘　　要：目的:对一例低纤维蛋白原血症家系进行表型和基因型分析。方法:用血凝仪检测先证者和父母3人外周血活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)、凝血酶时间(TT);纤维蛋白原(Fg)活性和抗原分别用Clauss法和免疫比浊法进行检测。PCR扩增Fg基因FGA、FGB和FGG所有外显子及其侧翼序列和启动子区,PCR产物纯化后直接测序进行基因分析。结果:先证者APTT、PT和TT均有延长,分别为45.30、19.90和31.70 s;纤维蛋白原活性和抗原均明显降低,分别为0.60 g/L(Clauss法)和0.90 g/L(免疫比浊法);先证者父母均正常。基因分析显示先证者纤维蛋白原FGG基因8号外显子g.7598G>C杂合碱基改变(密码子GAC>CAC),导致Asp316His错义突变,父母均未发现该突变。结论:新发现的纤维蛋白原γ链Asp316His点突变可能是该先证者低纤维蛋白原血症的分子机制之一。Objective： To analyze the phenotype and genotype of a family with hypofibrinogenemia.Methods： Assays of coagulation,including activated partial thrombo-plastin time（APTT）,prothrombin time（PT）and thrombin time（TT）,were carried out with Stago Compact in the proband and her parents.The activity and antigen of fibrinogen（Fg） in plasma were measured by Clauss method and immunonephelometry,respectively.All the exons,exon-intron boundaries and promoter regions of fibrinogen genes FGA,FGB and FGG were analyzed with direct sequencing.Results： The proband showed prolonged APTT,PT and TT values,which was 45.30s,19.90s and 31.70s respectively.The activity and antigen of fibrinogen in plasma were significantly decreased,which was 0.60 g/l and 0.90 g/L respectively.Her parents were normal.Genetic analysis revealed heterozygous g.7598GC in the exon 8 of FGG,which resulted in Asp316His missense mutation.But this mutation did not found in her parents.Conclusion： Hypofibrinogenemia of the proband maybe caused by Asp316His missense mutation in γ chain of fibrinogen.

关 键 词：低纤维蛋白原血症 凝血酶时间 纤维蛋白原 基因分析 

分 类 号：R554.5[医药卫生—血液循环系统疾病]