Yuan Chen, Manlin Zeng, Ke Zhang, Longying Ye, Shuting Jiang, Kaiqi Jia, Lihong Yang, MingShan Wang
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Molecular mechanism analysis of a family with hereditary coagulation FXI deficiency caused by compound heterozygous mutations.
Objective: The purpose of this study was to determine the molecular basis of a Chinese family with factor XI (FXI) deficiency.
Methods: The qRT-PCR was used to detect the transcription of F11 mRNA in transfected cells. ELISAs and western blot were used to detect the expression of FXI protein in culture media and lysates.
Results: Genetic analysis revealed that the proband carried a heterozygous nonsense mutation c.1107C>A (p.Tyr351stop) in exon 10 and a heterozygous missense mutation c.1562A>G (p.Tyr503Cys) in exon 13. The expression study revealed that p.Tyr351stop mutation resulted in the degradation of F11 mRNA. The p.Tyr503Cys mutation, however, had no effects on biosynthesis and secretion of FXI protein, but it had affected the catalytic activity of FXI.
Conclusion: The inherited FXI deficiency of this family is related to nonsense mutation p.Tyr351stop and missense mutation p.Tyr503Cys.
期刊介绍：
Blood Coagulation & Fibrinolysis is an international fully refereed journal that features review and original research articles on all clinical, laboratory and experimental aspects of haemostasis and thrombosis. The journal is devoted to publishing significant developments worldwide in the field of blood coagulation, fibrinolysis, thrombosis, platelets and the kininogen-kinin system, as well as dealing with those aspects of blood rheology relevant to haemostasis and the effects of drugs on haemostatic components
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