摘要
本研究旨在探讨vWF基因A1381T(rs216311)和-1793G/C(rs7966230)单核苷酸多态性(SNP)在中国裕固族、藏族、汉族之间的异同及其对血浆vWF浓度的影响,了解3个民族对vWF相关疾病的易感性。抽取322位裕固族、399位藏族及120位汉族正常人的外周静脉血,提取DNA,采用PCR-限制性酶切片段长度分析vWF基因A1381T、-1793G/C SNP,测序验证。用ELISA试剂盒测定血浆vWF水平。结果表明,vWF基因A1381T位点和-1793G/C位点的基因型分布在裕固族、藏族和汉族中均有差异(P<0.05),其中A1381T位点中的G G基因型在裕固族中占69.9%,远高于藏族和汉族中的56.6%及53.3%(P<0.01),A1381T AA型表达vWF水平较低。-1793G/C中CG型在裕固族中所占的比例远高于汉族,CC型基因型表达较高vWF水平。血浆vWF水平随民族和vWF基因多态性的不同而明显不同。结论:vWF基因A1381T和-1793G/C位点基因多态性分布在中国裕固族、藏族和汉族中有明显差异;基因多态性影响血浆vWF表达水平;裕固族和藏族血浆vWF水平比汉族高,这与环境和生活习惯因素也有关系。
The aim of this study was to investigate the similaritives and differences of A1381T（rs216311） and-1793G/C（rs7966230） single nucleotide polymorphisms（SNP） in Chinese Yugur,Tibetan,and Han nationalities and their influence on plasma vWF concentration in order to explore the sensitivity of these 3 nationatities to vWF-related diseases.Peripheral venous blood was obtained from 322 Yugur,399 Tibetan,and 120 Han healthy people.The DNA were then extracted.vWF gene A1381T and-1793G/C polymorphisms were analyzed by the polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） and sequenced when it was necessary.The vWF∶ Ag level in plasma was determined by ELISA.The results showed that the genotype distribution of vWF gene at both A1381T and-1793G/C loci in Yugur,Tibetan and Han nationalities was different with statistically significance（P0.05）.GG genotype of A1381T locus accounted for 69.9% in Yugur nationality,which was much higher than 56.6% and 53.3% in Tibetan and Han nationalities respectively（P0.01）;AA genotype of A1381T locus expressed a low level of vWF in plasma.For the-1793G/C locus,the proportion of CG genotype in Yugur was much higher than that in Han,CC genotype expressed a high level of vWF in plasma.The plasma vWF levels with different nationalities and the polymorphism of vWF gene were significantly different.It is concluded that the polymorphisms of vWF gene at both A1381T and-1793G/C loci in Yugur,Tibetan and Han are significantly different;the polymorphism of vWF gene influences the plasma vWF level;the plasma vWF levels in Yugur and Tibetan are significantly higher than that in Han,which may be associated with the living environment and habits.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2012年第5期1200-1204,1203-1204,共5页
Journal of Experimental Hematology
基金
国家科技部863项目(编号2008AA062503)
关键词
裕固族
藏族
汉族
血管性血友病因子
VWF基因
基因多态性
Yugur nationality
Tibetan nationality
Han nationality
von Willebrand factor
vWF gene
gene polymorphism
