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.
出处
《中国神经免疫学和神经病学杂志》
CAS
北大核心
2012年第5期375-379,共5页
Chinese Journal of Neuroimmunology and Neurology
关键词
纤维蛋白原
Bβ链
多态性
单核苷酸
分子活性功能
fibrinogen
Bβ-chain
polymorphism, single nucleotidel function of molecular activity
