新型纤维蛋白原突变 p.BβAla68Asp 导致遗传性纤维蛋白原不良血症。

IF 2.7 4区医学 Q2 HEMATOLOGY

Hamostaseologie Pub Date : 2023-12-01 Epub Date: 2023-07-29 DOI:10.1055/a-2116-8957

Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang

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引用次数: 0

摘要

研究目的我们的研究旨在分析一个遗传性纤维蛋白原不良血症血统的表型和基因型，并初步阐明其可能的发病机制：方法：采用一步凝血法检测纤维蛋白原活性（FIB:C），免疫比浊法定量检测纤维蛋白原抗原（FIB:Ag）。此外，还进行了 DNA 序列分析以确认突变位点。使用在线生物信息学软件进行了保守性分析和蛋白质模型分析：结果：该患者的 FIB:C 和 FIB:Ag 分别为 1.28 和 2.20 g/L。基因分析显示，FGB 存在一个 c.293C > A (p.BβAla68Asp) 的杂合突变。生物信息学和建模分析表明，该错义突变可能会对纤维蛋白原产生有害影响：结论：FGB 第 2 外显子中的 BβAla68Asp 突变可能是血统中观察到的 FIB:C 水平降低的原因。据我们所知，这种点突变在世界上尚属首次报道。

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A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.

Objective: Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.

Methods: The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.

Results: The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BβAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.

Conclusion: The BβAla68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.

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来源期刊

Hamostaseologie HEMATOLOGY-

CiteScore

5.50

自引率

6.20%

发文量

审稿时长

6-12 weeks

期刊介绍： Hämostaseologie is an interdisciplinary specialist journal on the complex topics of haemorrhages and thromboembolism and is aimed not only at haematologists, but also at a wide range of specialists from clinic and practice. The readership consequently includes both specialists for internal medicine as well as for surgical diseases.