右江医学2024，Vol.52Issue(3)：215-220,6.DOI:10.3969/j.issn.1003-1383.2024.03.005
1例由p.Arg35Cys引起遗传性异常纤维蛋白原血症家系的研究
A research on 1 case of hereditary abnormal fibrinogenemia family caused by p.Arg35Cys
摘要
Abstract
Objective To analyze the phenotype and genotype of 1 case of congenital dysfibrinogenemia caused by heter-ozygous mutation of the FGA gene in Zhuang region of Wuming,so as to explore the pathogenesis of the disease.Methods 5 peripheral blood samples from three generations of the proband were collected,and blood coagulation items such as pro-thrombin(PT),activated partial thromboplastin(APTT),fibrinogen(FIB),and thrombin time(TT)were analyzed by co-agulation analyzer,FIB was detected by PT algorithm and Claus method,whole blood was collected by DETA anticoagulant tubes and was screened through NGS,and mutations in the coding regions of the FGA,FGB,and FGG genes were verified by Sanger sequencing.Results The proband and his father showed reduced levels of the FIB-Clauss method and prolonged time of thrombin,while his sister and 2 daughters were normal.High-throughput gene sequencing revealed a heterozygous for the FGA c.103 C>T missense mutation detected in the proband and his father,which was not found in the detection of his sister and 2 daughters.Conclusion The molecular mechanism that leads to congenital dysfibrinogenemia in members of this family is FGA c.103C>T heterozygous missense mutation,which causes the 35th amino acid in the protein to change from ar-ginine to cysteine(p.Arg35Cys),resulting in congenital dysfibrinogenemia.关键词
基因突变/家系/遗传性异常纤维蛋白原血症Key words
gene mutation/family/congenital dysfibrinogenemia分类
医药卫生引用本文复制引用
唐勇,张福勇,蒋燕珍,吴崇荣,代洪飞,杨红海..1例由p.Arg35Cys引起遗传性异常纤维蛋白原血症家系的研究[J].右江医学,2024,52(3):215-220,6.基金项目
广西壮族自治区卫生健康委员会自筹经费科研课题(Z20200085) （Z20200085）
