Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations
Chen, Y.; Zhang, K.; Jin, Y.; Zeng, M.; Jia, K.; Yang, L.; Wang, M. · Zeitschrift für Orthopädie und Unfallchirurgie · 2023 · Heft 06 · S. 418 bis 425
Bibliografische Angaben
Zusammenfassung
Abstract Objective This study aims to provide a preliminary discussion of the molecular basis of FV deficiency caused by compound heterozygous mutations in two Chinese families. Methods Relative coagulation index was measured by the one-stage clotting method and the FV:Ag was measured by ELISA. All exons and flanking regions of the F5 gene were amplified by PCR and directly sequenced. ClustalX-2.1-win was used to analyze the conservation of mutations. The online software was used to predict the pathogenicity of mutations. PyMOL was used to analyze the variation in the spatial structure of the FV protein before a…
