异常纤维蛋白原血症和低纤维蛋白原血症——斯洛伐克患者的致病变异谱
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.
作者信息
Jaraskova Dominika, Chandoga Jan, Batorova Angelika, Prigancova Tatiana, Juhosova Miriama, Durina Pavol, Vavrova Alzbeta, Dallemule Silvia, Petrovic Robert, Kyselova Anna, Jankovicova Denisa, Bohmer Daniel
机构信息
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
National Haemophilia Centre, Department of Haematology, Faculty of Medicine, Comenius University and University Hospital Bratislava, Bratislava, Slovakia.
出版信息
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2025 Sep;169(3):179-187. doi: 10.5507/bp.2024.025. Epub 2024 Jul 29.
INTRODUCTION
Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre.
MATERIALS AND METHODS
Results of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.
RESULTS
Molecular-genetic analysis revealed six novel variants - FGA c.923_968dup p.(Gly324Lysfs44) and FGG c.1105C>T p.(His369Tyr) were identified in CD patients. In CH patients, in the FGG gene c.8G>A p.(Trp3), c.823G>T p.(Glu275*) and c.323C>A p.(Ala108Asp) variants were detected. In the FGB gene c.1427C>T p.(Ser476Leu) was identified.
CONCLUSION
This study is a positive contribution towards expanding knowledge about genetic variants in patients with congenital fibrinogen disorders.
引言
先天性低纤维蛋白原血症（CH）和先天性异常纤维蛋白原血症（CD）是由纤维蛋白原基因的数量或质量缺陷引起的罕见凝血障碍。本研究的目的是对在国家血友病中心登记的斯洛伐克患者先天性纤维蛋白原疾病的遗传背景和临床表现进行特征描述。
材料与方法
对36例患者使用聚合酶链反应随后直接测序的方法对纤维蛋白原基因FGA、FGB和FGG进行遗传分析，并评估结果。
结果
分子遗传学分析发现了六个新的变异——在CD患者中鉴定出FGA c.923_968dup p.(Gly324Lysfs44)和FGG c.1105C>T p.(His369Tyr)。在CH患者中，在FGG基因中检测到c.8G>A p.(Trp3)、c.823G>T p.(Glu275*)和c.323C>A p.(Ala108Asp)变异。在FGB基因中鉴定出c.1427C>T p.(Ser476Leu)。
结论
本研究对扩大先天性纤维蛋白原疾病患者遗传变异的知识做出了积极贡献。
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