摘要
目的回顾性分析2017年2月至2021年12月就诊于本院的20例先天性纤维蛋白原病(congenital Fibrinogen disorders,CFD)患者的临床表现、相关实验室检查及基因突变分析,以此提高对CFD诊断方法的认识。方法收集20例CFD患者临床特征及实验室检查,排除了常见的获得性低纤维蛋白原血症因素,对其纤维蛋白原(Fib)的FGA、FGB和FGG基因所有外显子和侧翼序列进行基因测序寻找基因突变位点。对2例CFD患者家系成员采集外周血基因组DNA,进行先证者相应突变位点区域基因检测。结果20例CFD患者既往无明显出血病史,11例女性患者亦无自发流产史,20例患者Fib均减低,凝血酶时间(TT)均延长。20例患者检出13种基因突变,其中90%(18/20)为错义突变,5%(1/20)为缺失变异,5%(1/20)为移码变异,35%(7/20)患者存在FGA链104位点Arg35His突变,其中3种新基因突变国内尚未报道。结论多数CFD患者症状轻微或者无症状,通过基因检测筛查后方可确诊,FGA链Arg35His是本地区的突变热点,均为维吾尔族,此位点突变是否与维吾尔族有关有待于进一步研究证实。
Objective To retrospectively analyze the clinical manifestations,related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders(CFD)admitted to our hospital from February 2017 to December 2021,so as to improve the understanding of CFD diagnosis.Methods Clinical characteristics and laboratory examination of 20 CFD patients were collected,and common secondary hypoFibrinemia factors were excluded.Gene sequencing was performed on all exons and flanks of FGA,FGB and FGG genes of 20 patients to find gene mutation sites.The peripheral blood genomic DNA was collected from the family members of two CFD patients,and the genes of the corresponding mutation sites of the proband were detected.Results The 20 CFD patients had no history of bleeding;11 female patients had no history of spontaneous abortion;all 20 patients had reduced Fib and prolonged thrombin time(TT).There were 13 gene mutations of different types in 20 patients,among which 90%(18/20)were missense mutations,5%(1/20)was deletion mutation,and 5%(1/20)was frameshift mutation.Seven patients(35%)had Arg35His mutation at site 104 of the FGA chain,among which 3 new gene mutations have not been reported in China.Conclusion Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening.FGA chain Arg35His is a mutation hotspot in this region,and all of them are Uyghur.Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.
作者
古再丽努尔·吾甫尔
斯看德尔·艾白都拉
黄芩
郎涛
毛敏
Guzailinuer Wufuer;Sikandeer Aiabout:blankla;HUANG Qin;LANG Tao;MAO Min(Department of Hematology,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830000,China)
出处
《中国输血杂志》
CAS
2023年第5期432-436,共5页
Chinese Journal of Blood Transfusion
基金
新疆少数民族科技人才特殊培养项目自治区课题(2021D03021)。
关键词
先天性纤维蛋白原病
临床表现
实验室检查特征
基因突变
新疆
congenital Fibrinogen disorder
clinical manifestations
laboratory examination characteristics
genetic mutation
