Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency

• Published in: Zhongguo shi yan xue ye xue za zhi Vol. 26; no. 2; p. 508
• Main Authors: Liu, Shan, Zhang, Jing-Yu, Li, Zheng-Rong, Wang, Yan, Niu, Zhi-Yun, Lin, Feng-Ru
• Format: Journal Article
• Language: Chinese
• Published: China 01.04.2018
• ISSN: 1009-2137
• DOI: 10.7534/j.issn.1009-2137.2018.02.034

To examine one young female patient with hereditary FVII deficiency and her family members, to observe the gene mutation and clinical phenotype, and to investigate the molecular mechanism of the dysfunction. Prothrombin time (PT), activated partial thromoploastin time (APTT), fibrinogen (Fg) and FVII activity (FVII:C) and FVII antigen (FVII:Ag) were tested. The gene mutations were sought by DNA sequencing for all of the exons and flanks, 5' and 3' non-translation region of F7 gene. To confirm the role of the found gene mutation, the reverse sequence were determined with Chromas software. To infer the influence of the mutation on the synthesis and function of FVII protein, the FVII protein molecule model containing the found mutation was constructed and the function prediction was performed by the signal peptide prediction database. Compared with the normal population, the proband's PT value was significantly prolonged, and the ratio % FVII:C and that of FVII:Ag were significantly decreased by 1.1% and 0.9%, r