纤维蛋白原Bβ链基因多态性与其含量、分子活性及脑梗死的关系  

Relationship between multi-locus fibrinogen polymorphisms and fibrinogen concentration, molecular reactivity and cerebral infarction

作　　者：元小冬[1] 王淑娟[1] 许亚茹[2] 高捷[1] 杨娜[1] 李静[1] 李宏芬[1] 

机构地区：[1]华北煤炭医学院附属开滦医院神经内科,河北唐山063000 [2]华北煤炭医学院附属医院感染科

出　　处：《中华血液学杂志》2009年第9期582-587,共6页Chinese Journal of Hematology

摘　　要：目的研究血浆纤维蛋白原（fibrinogen，Fg）Bβ链基因在北方汉族人群中的多态性分布特征及对其血浆含量和分子活性的影响，并进一步探讨Fg基因多态性联合生理和环境因素在脑梗死发病中的作用。方法采用群体抽样的方法对1652名开滦集团职工进行查体和问卷调查，取静脉血检测生化指标及血浆Fg浓度和纤维蛋白单体聚合反应速率（FMPV）、最大吸光度（Amax）、FMPV／Amax比值等反映职分子聚合功能指标，应用聚合酶链反应-限制性内切酶片段长度多态性技术进行Fg基因6个位点Bβ-854G／A、-455G／A、-249C／T、-148C／T、448G／A及Bcl-1G／A多态性检测。结果瞻基因Bβ-249变异T等位基因在检测人群中分布频率（65．49％）明显高于野生型，而其余5个位点等位基因和基因型在检测人群的分布均以野生型为主；6个位点中仅FgBβ-854位点与Fg浓度和FMPV／Amax有显著性相关性，№浓度在GA型组明显高于GG、AA型组；在脑梗死组仅Bcl-1A等位基因及GA、AA基因型分布频率明显高于非梗死组，同时AA基因型人群脑梗死患病率也高于GG及GA基因型人群（P值均〈0．01）。结论VgBβBcl-1等位基因A及其变异型人群是脑梗死的易感人群；FgBβ-854是瞻浓度和分子聚合活性的主要调控位点之一。Objective To study the distribution characteristics of Beta-fibrinogen （Fg）B gene- 854G/A,-455G/A,-249C/T,-148C/T, 448G/A and Bcl-1 G/A polymorphism in North China HaM population, and the influence on plasma Fg concentration and molecular reactivity. Further more, to explore the role of Fg gene polymorphisms combining with multi-physiological and environmental factors in the development of cerebral infarction. Methods Cluster sampling, health examination and questionnaires surveys of 1652 subjects from Tangshan Kailuan Group Corporation were conducted. Blood biochemistry, Fg concentration, fibrin monomer polymerized velocity （FMPV）, absorbance maximum （Amax） and FMPV/Amax were measured. The six polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Results In the population, the proportion of the FgB β-249 T variation allele was 65.49%, while the proportion of the rest loci was predominantly wild type. The significant differences in Fg concentration and FMPV/Amax were found in -854 genotype groups. The Fg concentration in -854GA group was higher than those in GG and AA group. Only the distribution frequancies of FgB β Bcl-1 A variation allele, GA and AA genotype in the cerebral infarction group were higher than those in non-infarction group, and the prevalence of cerebral infarction in AA genotypc group was higher than other groups （ the probability value of above-mentioned results were all P 〈0.01 ）. Conclusions FgB β Bcl-IA allele and variation genotype were susceptible to cerebral infarction. FgB β-455GA/448G linkage genotype may contribute to the increased plasma Fg concentration. FgB β-854 was one of the main controlling gene loci for plasma Fg concentration and molecular reactivity.

关 键 词：纤维蛋白原 多态性 限制性片段长度 基因型 分子聚合功能 脑梗塞 

分 类 号：R686[医药卫生—骨科学]