FgBβ-1420G/A、-993C/T、1689T/G、BsmAIG/C、I6I/D、345C/T、HinfIA/C基因多态性对血浆Fg浓度和分子功能的影响  

The impact of FgBβ-1420G/A,-993C/T,1689T/G,BsmAIG/C,I6I/D,345C/T and HinfIA/C on plasma Fg concentration and molecular function

作　　者：张楠楠[1] 许亚茹[2] 徐建辉[1] 王淑娟[1] 李静[1] 邓红亮[1] 元小冬[1] 

机构地区：[1]河北联合大学附属开滦医院神经内科,063000 [2]河北联合大学

出　　处：《中国神经免疫学和神经病学杂志》2012年第5期375-379,共5页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的分析人群纤维蛋白原(fibrinogen,Fg)Bβ-1420G/A、-993C/T、1689T/G、BsmAIG/C、I6I/D、345C/T、HinfIA/C基因分布特征及其与血浆Fg浓度和分子活性功能的关系。方法采用整群抽样的方法选取开滦集团离退休职工940人,均留取清晨空腹静脉血测定血糖、尿酸等生化指标;应用PCR-RFLP、AS-PCR和基因测序方法检测FgBβ链7位点的基因型;采用微机辅助血浆Fg功能自动监测系统测定血浆Fg浓度和纤维蛋白单体聚合反应速率(FMPV)、最大光密度(Amax)、FMPV/Amax等反映Fg分子聚合功能的参数。结果仅FgBβ链-1420基因多态性位点变异基因型的分布频率高于其野生型的分布频率,达61.5%,而其余6位点则均以野生基因型分布占优势。Fg 7个多态性位点各基因型人群之间的血浆Fg浓度、FMPV、Amax及FMPV/Amax均无统计学差异(P>0.05)。依据多因素分析结果进行分层分析,以尿酸分层时可见高尿酸组与尿酸正常组FMPV/Amax比较有统计学差异(P<0.05)。结论 FgBβ链5′端启动子区-1420G/A、-993C/T,转录区外显子345C/T和内含子1689T/G、BsmAIG/C、I6I/D及3′端Hinf IA/C基因多态性位点对血浆Fg浓度和分子活性功能的表达没有直接明显影响,但其形成的特殊基因连锁板块对血浆Fg功能表达的影响尚需进一步研究。Objective To investigate the population distribution of FgBβ-1420G/A,-993C/T,1689T/G,BsmAIG/C,I6I/D,345C/T and HinfIA/C,and the relationship of them with plasma fibrinogen concentration and molecular activity.Methods 940 subjects from Tangshan Kailuan Group were enrolled with the method of cluster sampling.Polymorphisms of 7 sites were detected by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）,allele-special PCR（AS-PCR） and Sequencing;Fg concentration,fibrin monomer polymerized velocity（FMPV）,absorbance maximum（Amax）,FMPV/Amax and biochemistry indicators including blood glucose and Uric Acid（UA） were measured.Results In the population the frequencies of 6 sites’ wild types were higher than the mutant,whereas the frequency of mutated types（61.5%） of Fg Bβ-1420 was predominant.There was no difference in Fg concentration,FMPV,Amax and FMPV/Amax of genotypes in 7 locis（P〉0.05）;Stratified analysis according to the result of multi-factor analysis,stratified according to UA,difference in FMPV/Amax was found between the control group and high UA group（P〉0.05）.Conclusions There is no direct significant impact of-1420G/A,-993C/T of 5′ terminal promoter region,345C/T in exon of transcriptional region,1689T/G,BsmAIG/C,I6I/D in intron,and Hinf IA/C in 3′ terminal on plasma fibrinogen concentration and the function of molecular activity,but the impact of the previously formed special gene linkage blocks on plasma Fg functional expression needs further study.

关 键 词：纤维蛋白原 Bβ链 多态性 单核苷酸 分子活性功能 

分 类 号：R743[医药卫生—神经病学与精神病学]