Fu Wei-jun, Hou Jian, Wang Dong-xing, Yu Run-quan
Department of Hematology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.
Zhonghua Xue Ye Xue Za Zhi. 2003 Mar;24(3):119-21.
To explore the molecular mechanisms involved in the patient with congenital FV deficiency.
Activity of FV was determined by biochemical method. The PCR products of FV gene was analysed by directly sequencing or sequencing after cloned into T-vector. The mutative FV gene was analysed by restriction enzyme analysis in the proband and her family members.
A homozygous missense mutation G5729T resulting in Gly1880Val was revealed in the proband and confirmed in the family screening. Structure-function studies of the factor V mutants (Gly1880Val) demonstrated the importance of Gly1880 for structural stability of the Factor V.
G5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.
探讨先天性FV缺乏症患者的分子机制。
采用生化方法测定FV活性。通过直接测序或克隆到T载体后测序分析FV基因的PCR产物。在先证者及其家庭成员中通过限制性酶切分析对突变的FV基因进行分析。
在先证者中发现了导致Gly1880Val的纯合错义突变G5729T，并在家族筛查中得到证实。对因子V突变体（Gly1880Val）的结构-功能研究表明Gly1880对因子V结构稳定性的重要性。
FV基因的G5729T突变与先天性FV缺乏症的发病机制有关。
