摘要
最近发现,不仅血管性血友病因子(vWF)减少会造成血管性血友病,而且vWF水平增加也会造成各种血栓性疾病。vWF水平受遗传因素的影响,不同单核苷酸多态性(SNP)基因型的人群对疾病的易感性不尽相同;不同血型的个体vWF表达水平也不同。环境因素也可影响血浆vWF水平。了解vWF基因的启动子、外显子和内含子区域多态性与血栓性疾病的关系有助于临床疾病的预防与治疗。本综述讨论vWF基因的启动子、外显子和内合子区域SNP与血栓性疾病关系的研究进展。
Recently it has been discovered that not only von Willebrand factor （vWF） decrease results in von Willebrand disease, but also vWF increase can lead to several thrombosis diseases. Plasma vWF level is affected by genetic factors. Individuals with different single nucleotide polymorphism （SNP） genotype in vWF have different susceptibility to disease; individuals with different blood group have different plasma vWF level. Environment factors also affect plasma vWF level. Understanding relationship of polymorphisms in promoter, exon and intron with thrombosis diseases contribute to prevent and cure these diseases. In this review, the relationship of SNP in promoter, exon and intron of vWF gene with thrombosis diseases is summarized.
出处
《中国实验血液学杂志》
CAS
CSCD
2010年第2期549-552,共4页
Journal of Experimental Hematology
基金
科技部国际科技合作重大项目资助课题(编号2006DFB31430)
国家"863"高技术发展重点项目资助课题(编号2008AA062503)
