1个FGA基因c.103C>T杂合突变导致的遗传性异常纤维蛋白原血症家系分析  

Pedigree Analysis of Congenial Dysfibrinogenemia Caused by a FGA Gene c.103C>T Heterozygous Mutation

作　　者：刘琳[1] 王卫敏[1] 聂鼎睿 安超 马平[1] 孙玲[1] LIU Lin;WANG Wei-min;NIE Ding-rui;AN Chao;MA Ping;SUN Ling(Department of Hematology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院血液内科,河南郑州450052

出　　处：《河南医学研究》2020年第33期6161-6164,共4页Henan Medical Research

摘　　要：目的分析1个FGA基因c.103C>T杂合突变导致的遗传性异常纤维蛋白原血症家系的表型和基因型,并探讨其发病机制。方法采集先证者家系2代6人外周血,分别用血凝仪、生化分析仪及血细胞分析仪检测凝血相关指标、肝功能及血常规,Clauss法检测FIB水平,免疫比浊法检测FIB抗原;二代测序技术进行全基因组测序,筛选已知与凝血疾病高度相关的76个基因的全部外显子区域及旁侧内含子区域。结果先证者及其4个女儿均存在FIB水平降低及凝血酶时间(TT)延长,二代测序结果显示先证者及其4个女儿存在FGA基因第2外显子c.103C>T突变。结论导致本家系成员异常纤维蛋白原血症的分子机制是FGA基因c.103C>T杂合突变。Objective To analyze the phenotypes and genotypes of a family with congenital dysfibrinogenemia caused by a FGA gene c.103C>T heterozygous mutation and to discuss the pathogenesis.Methods Venous blood samples of 6 persons from two generations of this family were collected.Automated blood coagulation analytical instrument,biochemical analyzer and blood cell analyzer were used to detected coagulation related indexes,liver function and blood routine respectively.The activity and level of fibrinogen were measured by the Clauss method and immunoturbidimetry.The whole genome was sequenced by the next-generation sequencing method to screen all exon regions and lateral intron regions of 76 genes known to be highly related to blood coagulation diseases.Results There was a decrease in fibrinogen level and prolonged thrombin time(TT)in the proband and her four daughters.Next-generation sequencing results revealed heterozygous c.103 C>T in the exon 2 of FGA gene.Conclusion The molecular mechanism of congenital dysfibrinogenemia in this family is FGA gene c.103C>T heterozygous mutation.

关 键 词：遗传性异常纤维蛋白原血症 纤维蛋白原异常 基因突变 二代测序 

分 类 号：R596[医药卫生—内科学]