Wang Tian-Tian, Shao Jing-Ru, Wang Jie, Cheng Yan, Zhang Xue-Qin, Fang Yun-Hai, Yao Cheng-Fang, Zhang Xin-Sheng
School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences Jinan 250000, Shandong Province, China,Shandong Blood Center, Jinan 250000, Shandong Province, China.
Shandong Blood Center, Jinan 250000, Shandong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Apr;29(2):586-590. doi: 10.19746/j.cnki.issn.1009-2137.2021.02.044.
To detect and analyze coagulation related indexes and genotypes of a patient with congenital fibrinogen deficiency and his family members, and to investigate the possible molecular pathogenesis.
Four peripheral blood samples (proband and 3 family members) were collected and the prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen (Fg), D-Dimer and eight coagulation factor indicators were detected. All exons and flanking sequences of the FGA, FGB, and FGG genes encoding the three peptide chains of fibrinogen were sequenced and analyzed by bioinformatics.
Among the eight coagulation factors of the proband and the elder sister, F Ⅴ and F Ⅷ were slightly higher, TT was significantly prolonged, and Fg was significantly reduced. Sequencing results showed that c.901C>T heterozygous mutation existed in the FGG gene. Bioinformatics analysis showed that the mutation changed the original protein structure and reduced the number of hydrogen bonds.
The fibrinogen gamma chain c.901C>T heterozygous mutation is the main cause of congenital fibrinogen deficiency in this family. This mutation is reported for the first time at home and abroad.
检测并分析1例先天性纤维蛋白原缺乏症患者及其家庭成员的凝血相关指标和基因类型，探讨其可能的分子发病机制。
采集4例外周血样本（先证者及3名家庭成员），检测凝血酶原时间（PT）、活化部分凝血活酶时间（APTT）、凝血酶时间（TT）、纤维蛋白原（Fg）、D-二聚体及8项凝血因子指标。对编码纤维蛋白原3条肽链的FGA、FGB和FGG基因的所有外显子及其侧翼序列进行测序，并通过生物信息学进行分析。
先证者及其姐姐的8项凝血因子中，FⅤ和FⅧ略高，TT显著延长，Fg显著降低。测序结果显示，FGG基因存在c.901C>T杂合突变。生物信息学分析表明，该突变改变了原有蛋白质结构，减少了氢键数量。
纤维蛋白原γ链c.901C>T杂合突变是该家系先天性纤维蛋白原缺乏症的主要病因。此突变在国内外首次报道。
