| 纤维蛋白原γ链Ile171His突变导致遗传性低纤维蛋白原血症家系研究 |
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| 引用本文： | 刘建新,王春键,戴菊华,张梅香,吕萌,江滨. 纤维蛋白原γ链Ile171His突变导致遗传性低纤维蛋白原血症家系研究[J]. 中华内科杂志, 2022, 0(2): 172-176 |
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| 作者姓名： | 刘建新 王春键 戴菊华 张梅香 吕萌 江滨 |
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| 作者单位： | 北京大学国际医院血液科;北京大学国际医院检验科;北京大学人民医院血液科 |
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| 摘 要： | 目的:对一个遗传性低纤维蛋白原血症家系进行临床表型和基因型研究，并探讨其分子发病机制。方法:抽取于2018年12月至2019年10月就诊于北京大学国际医院的全部家系成员外周血，检测活化部分凝血活酶时间、凝血酶原时间、凝血酶时间和血栓弹力图。纤维蛋白原活性和抗原分别用Clauss法和免疫比浊法检测。PCR扩增纤维蛋白原基...
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| 关 键 词： | 遗传性低纤维蛋白原血症 纤维蛋白原 基因突变 |
Fibrinogen gamma-chain mutation,p.Ile171His,leads to hereditary hypofibrinogenemia |
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| Liu Jianxin,Wang Chunjian,Dai Juhua,Zhang Meixiang,Lyu Meng,Jiang Bin. Fibrinogen gamma-chain mutation,p.Ile171His,leads to hereditary hypofibrinogenemia[J]. Chinese journal of internal medicine, 2022, 0(2): 172-176 |
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| Authors: | Liu Jianxin Wang Chunjian Dai Juhua Zhang Meixiang Lyu Meng Jiang Bin |
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| Affiliation: | (Department of Hematology,Peking University International Hospital,Beijing 102206,China;Department of Clinical Laboratory,Peking University International Hospital,Beijing 102206,China;Peking University People′s Hospital,Peking University Institute of Hematology,National Clinical Research Center for Hematologic Disease,Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation,Beijing 100044,China) |
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| Abstract: | Objective To explore the clinical phenotype and genotype of a family with hereditary hypofibrinogenemia.Methods Activated partial thrombin time(APTT),prothrombin time(PT),thrombin time(TT)and thrombelastogram(TEG)were tested in all family members.Fibrinogen activity and antigen were detected by Clauss method and immunoturbidimetric method respectively.All exons and flanking sequences of fibrinogen FGA,FGB,FGG genes were analyzed by PCR,and the products were subjected to Sanger sequencing.Results The proband represented prolonged PT and TT,low Fg activity and antigen,elevated K value and decreased Angle value in TEG.Other family members reported similar changes including proband′s father,daughter and son,and his elder brother and his niece.Exon 5 c.510_512 of FGG gene in the proband revealed a minor deletion mutation.Conclusion The novel heterozygous missense mutation of exon 5 c.510_512del(Gln170_Ile171 del ins His)of FGG gene is the molecular mechanism that leads to hereditary hypofibrinogenemia in this family. |
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| Keywords: | Hereditary hypofibrinogenemia Fibrinogen Gene mutation |
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