凝血因子ⅩⅢ Val34Leu多态性与心脑血管疾病
被引量:3
摘要
凝血因子(F)是凝血途径最后一步的关键酶,在正常凝血过程中起着交联纤维蛋白的重要作用。近年的研究发现,位于Fa亚单位2号外显子上的34号密码子G→T突变,导致其所编码的缬氨酸转变为亮氨酸,即VaB4Leu多态性,与心脑血管疾病有明确的相关性。Leu34对防止脑梗死、心肌梗死的发生是一种保护因素,而对出血性卒中则可能是一种危险因素。
出处
《国外医学(脑血管疾病分册)》
2003年第5期384-386,共3页
Foreign Medical Sciences Cerebrovascular Diseases
参考文献18
-
1谢汝萍,杨志杰,于敏,肖卫忠,张新宇,王丽华,张燕,王朝曦,黄因敏,徐希平.凝血因子XⅢ基因Val34Leu突变与脑出血神经功能的相关研究[J].现代康复,2001,5(2):92-93. 被引量:9
-
2Hashiguchi T, Saito M, Morishita E, et al. Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor ⅩⅢ. Blood, 1993, 82:145 -150.
-
3Ichinose A, Bottenus RE, Davie EW. Structure of transglutaminases.J Biol Chem, 1990, 265:13411 - 13414.
-
4Muszbek L, Yee VC, Hevessy Z. Blood coagulation factor ⅩⅢ: structure and function. Thromb Res. 1999.94:271 -305.
-
5Mikkola H, Syrjala M, Rasi V, et al. Deficiency in the A-subunit of coagulation factor ⅩⅢ: two novel point mutations demonstrate different effects on transcriot levels. Blood. 1994.84:517-525.
-
6Anwar R, Gallivan L, Edmonds SD, et al. Genotype/phenotype correlations for coagulation factor ⅩⅢ: specific normal polymorphisms are associated with high or low factor ⅩⅢ specific activity. Blood,1999.93: 897 - 905.
-
7Kangsadalampai S, Board PG. The Val34Leu polymorphism in the A subunit of coagulation factor ⅩⅢ contributes to the large normal range ha activity and demonstrates that the activation peptide plays a role in catalytic activity. Blood. 1998.92:2766 -2770.
-
8Kohler HP, Stickland MH, Ossei-Gerning N, et al. Association of a common polymorphism in the factor ⅩⅢ gene with myocardial infarction. Thromb Haemost. 1998.79:8 - 13.
-
9Wartiovaara U, Parola M,Mikkola H, et al. Association of F ⅩⅢ Val34Leu with decreased risk of myocardial infarction in Finnish males. Atherosclerosis, 1999, 142:295 -300.
-
10Elbaz A, Poirier O, Canaple S, et al. The association between the Val34Leu polymorphism in the factor ⅩⅢ gene and brain infarction.Blood. 2000.95:586 -591.
二级参考文献9
-
1Catto AJ,Kohler HP,Bannan S,et al.Factor XⅢ Val 34 Leu:A novel associ ation with primary intracerebral hemorrhage[].Stroke.1998
-
2Anwar R,Stewart AD,Miloszewski KJ,et al.Molecular basis of inherited fac tor XⅢ deficiency:identification of multiple mutations provides insights into proteinfunction[].Br J Haematol.1995
-
3Hashiguchi T,Saito M,Morishita E,et al.Two genetic defects in a patient with complete deficiency of the b subunit for coagulation factor XⅢ[].Blood.1993
-
4Shen LL,Hermans J,McDonagh J,et al.Effects of calcium ion and covalent crosslinking on formation and elasticity of fibrin cells[].Thrombosis Research.1975
-
5Kohler HP,Stickland MH,Ossei Gerning N,et al.Association of a common polymorphism in the factor XⅢ gene with myocardial infarction[].Thromb Hsemost.1998
-
6Catto AJ,Kohler HP,Coore J,et al.Association of a common polymorphism in the factor XⅢ gene with venous thrombosis[].Blood.1999
-
7Kohler HP,Ariens RAS,Whitaker P,et al.A common coding polymorphism in the FXⅢ A subunit gene(FXⅢ Val34Leu) affects crosslinking activity[].Thrombosis and Haemostasis.1998
-
8Kangsadalampai S,Blood PG.The Val34Leu polymorphism in the A subunit of coagulation factor XⅢ contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity[].Blood.1998
-
9Fickenscher K,Aab A,Stuber W.A photometric assay for blood coagulation factor XⅢ[].Thrombosis and Haemostasis.1991
共引文献8
-
1张玉蓉,李正仪,陈葳.凝血因子Ⅷ基因Val 34 Leu突变与脑梗死关系的研究[J].临床神经病学杂志,2004,17(4):261-263. 被引量:2
-
2出良钊,刘健.出血性脑卒中候选基因的研究进展[J].贵州医药,2005,29(2):185-188.
-
3黄军政.利用技术手段创作电视画面[J].大众科技,2005,7(3):49-50.
-
4李正仪,石少亭,陈崴,何英利,张玉蓉.FXIIIA3种基因多态性与脑血管疾病的关系[J].中风与神经疾病杂志,2005,22(2):100-103. 被引量:5
-
5谢春英,潘春燕,涂传清,吴建增,叶国强,邓春艳.PCR-RFLP法检测106例脑梗死凝血因子Ⅹ Ⅲ Val34Leu基因多态性结果分析[J].右江医学,2006,34(3):237-239.
-
6亓传洁,褚晓凡.凝血因子在脑出血继续出血治疗方面的研究进展[J].中风与神经疾病杂志,2006,23(1):116-118. 被引量:2
-
7马全福,袁延年,庞学仁,梁俊峰,刘盛.高原地区Nd∶YAG接触式激光治疗前列腺增生症[J].中国激光医学杂志,1999,8(3):166-168. 被引量:1
-
8欧阳晓春,田承为,黄晓峰,管丽红,张莉,王婕妤,廖祥萍,刘南海.凝血因子■Val34Leu基因突变与阿尔茨海默病的相关性研究[J].赣南医学院学报,2023,43(5):485-487.
同被引文献23
-
1杜贻萌,路方红,王克志,吴凡,田奇,孙慧,商清.凝血因子Ⅶ及其基因MspI多态性与高血压合并脑梗死的相关性[J].中国动脉硬化杂志,2004,12(6):691-694. 被引量:5
-
2黄赛玉,谭利明,肖志杰,蒋波,吴军,卢伟.载脂蛋白E基因多态性与不同性别老年脑出血患者的关系[J].中华老年心脑血管病杂志,2006,8(4):252-254. 被引量:3
-
3[1]DOGGEN C J M,ROSENDAAL F R.Levels of factor Ⅷ and the risk of myocardial infarction[J].Thromb Haemost,2001,86(suppl):2864.
-
4[2]TAINS B C,BLOEMENKAMP D C M,KEMMEREN J M,et al.Elevated factor Ⅷ activity levels and the risk of acute myocardial infarction in young women[J].Thromb Haemost,2001,86(suppl):2863.
-
5[3]FOLSOM A R,ROSAMOND W D,SHAHAR E,et al.Prospective study of markers of hemostatic function with risk of ischemic stroke.The atherosclerosis risk in communities study investigation[J].Circulation,1999,100(7):736-742.
-
6[4]KRAAI JENHAGEN R A,ANKER P S,KOOPMAN M M,et al.High plasma concentration of facter FⅧc is a major risk factor for venous thromboembolism[J].Thromb Haemost,2000,83(1):5-9.
-
7[5]DARGAUD Y,TRZECIAK M C,BORDET J C,et al.Elevation of factor FⅧ:C and venous thromboembolism[J].Thromb Haemost,2001,86(suppl):1455.
-
8Kohlsted K, Brandes RP, Muller Ester W, et al. Angiotensin - converting enzyme is involved in outside - insignaling in endothelial cells. Cite Res,2003,13(2) :167 - 169.
-
9Girelli D,Russo C,Ferraresi P,Olivieri O,Pinotti M,Friso S,et al.Polymorphisms in the factor gene and the risk of myocardial infarction in patients with coronary artery disease [ J]. N Engl J Med, 2000, 343 (11):774-780.
-
10Mrozikiewicz PM,Cascorbi I,Ziemer S,Laule M,Meisel C,Stangl V,et al.Reduced procedural risk for coronary catheter interventions in carriers of the coagulation factor-GIn353 gene[J].J Am Coll Cardiol, 2000,36(5):1520-525.
引证文献3
-
1张丽杰,武湘云,孙桂兰,赵振军.血浆部分凝血因子指标检测在某些疾病中的变化及意义[J].临床荟萃,2004,19(15):894-895.
-
2杨同宏.糖尿病患者血管紧张素转换酶与凝血变化的相关分析[J].中原医刊,2006,33(8):40-41.
-
3黄志军,王水云,甘美连,黄璐璐,柏承文,黄晓勇.华南汉族脑出血患者凝血因子ⅦR353Q基因型的检测[J].中国动脉硬化杂志,2007,15(6):445-447.
-
1涂传清,吴建曾,谢春英,潘春燕,李建辉,黄绵清.深圳地区汉族人凝血因子XIIIVal34Leu基因多态性研究[J].广东医学院学报,2004,22(6):566-567. 被引量:2
-
2李刚,褚晓凡.凝血因子XⅢ与脑出血及继续出血[J].中华神经医学杂志,2008,7(4):425-427.
-
3谢汝萍,杨志杰,于敏,肖卫忠,张新宇,王丽华,张燕,王朝曦,黄因敏,徐希平.凝血因子XⅢ基因Val34Leu突变与脑出血神经功能的相关研究[J].现代康复,2001,5(2):92-93. 被引量:9
-
4涂传清,吴建曾,谢春英,潘春燕,李建辉,黄绵清,张雄.汉族人群凝血因子XIII Val34Leu多态性与动脉血栓性疾病的关系[J].中国临床康复,2005,9(1):70-71. 被引量:1
-
5秦培英,唐玉兰.凝血因子ⅩⅢ基因突变与疾病的关系研究进展[J].医学综述,2007,13(20):1524-1526.
-
6唐玉兰,秦培英,黄芩,梁军利.广西地区壮、汉族原发性脑出血患者凝血因子 A亚单位Pro564Leu基因多态性的研究[J].临床神经病学杂志,2011,24(2):102-104. 被引量:3
-
7赵奇煌,宋仁兴.自发性脑内出血的研究进展[J].世界急危重病医学杂志,2005,2(1):549-552.
-
8朱以诚,崔丽英,华宝来,潘家绮.血浆纤维蛋白原水平与心脑血管疾病的相关性[J].中国医学科学院学报,2005,27(1). 被引量:3
-
9马秋玲,蔡望伟.凝血因子ⅩⅢ基因表达的调控及功能研究进展[J].国外医学(输血及血液学分册),2005,28(3):223-226.
-
10秦培英,唐玉兰,黄芩.不同性别脑出血与凝血因子ⅩⅢAPro564Leu基因多态性的关系[J].中风与神经疾病杂志,2011,28(9):790-792. 被引量:2