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345 C/T和内含子1689T/G、BsmAIG/C、I6I/D及3'端HinfIA/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 FgB(3-1420G/A, -993C/T, 1689T/ G, BsmAIG/C, I6I/D, 345C/T and HinflA/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 B(3-1420 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 promsfter 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.
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