Analysis of a consanguineous pedigree featuring hereditary coagulation factor Ⅴ deficiency

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 30; no. 2; p. 161
• Main Authors: Xie, Yao-sheng, Zhang, Yang, Zhu, Li-qing, Jin, Yan-hui, Yang, Li-hong, Xie, Hai-xiao, Wang, Ming-shan, Yang, Xiao-li
• Format: Journal Article
• Language: Chinese
• Published: China 01.04.2013
• Subjects: Adult; Consanguinity; Factor V - genetics; Factor V Deficiency - blood; Factor V Deficiency - genetics; Female; Humans; Male; Middle Aged; Mutation, Missense; Partial Thromboplastin Time; Pedigree; Prothrombin Time; Sequence Analysis, DNA
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.issn.1003-9406.2013.04.008

To screen potential mutation and explore the underlying mechanism for a consanguineous pedigree featuring hereditary coagulation factor Ⅴ (FⅤ) deficiency. Clinical diagnosis was validated by coagulant parameter assays of prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activity (FⅤ:C) and FⅤ antigen (FⅤ:Ag). Potential mutations of the F5 gene in the proband and his family members were analyzed by direct DNA sequencing of PCR products of all exons, exon-intron boundaries and 3', 5' untranslated regions. Suspected mutation was confirmed by reverse sequencing. The PT and APTT in the proband were significantly prolonged, which measured 23.5 s (reference range 11.8-14.8 s) and 50.5 s (reference range 27.0-41.0 s), respectively. FⅤ activity and FⅤ antigen of the proband were significantly reduced to 8% and <1%, respectively. PT and APTT in the younger sister of the proband were also significantly prolonged (24.1 s and 62.4 s, respectively). Her FⅤ activity and F