纤维蛋白原β-148C/T、448G/A基因多态性与脑梗死发病类型的相关性研究

目的:研究纤维蛋白原(Fibrinogen,Fg)Bβ-148C/T、448G/A基因多态性对血浆Fg浓度、分子功能的影响及其与脑梗死类型的关系。方法:选取2002.11～2003.10在开滦神经内科住院脑梗死患者160例,将其分为脑动脉主干支(Main—trunk cerebralinfarction,MCl)与穿通支梗死(Penetrating cerebral infarction,PCD组,同时选取162名正常志愿者为对照组,应用聚合酶链反应-限制性片段长度多态法检测其Fgβ-148C/T和448G/A基因多态性,并测定血浆Fg浓度、分子功能及各项相关指标。结果MCI组血浆Fg浓度、FMPV/AMAX高于对照组,FMPV/AMAX高于PCI组:Bβ148CC基因型人群MCI组FMPV/AMAX高于PCI组及对照组,突变基因型人群MCI组血浆Fg浓度高于PCI组及对照组;β448GG基因型人群MCI和PCI病人仅FMPV明显高于对照组,突变基因型人群MCI组血浆Fg浓度、FMPV、FMPV/AMAX高于对照组,但仅Fg浓度高于PCI组;三组中Bβ-148CC、CT、TT和Bβ448GG、CA、AA基因型构成比无差别,各基因型人群中各型脑梗死的分布频率也无差异;PCI纽CT+GA这一突变连锁基因型的构成比高于对照组.且此连锁基因型人群中MCI和PCI组的血浆Fg浓度高于对照组。结论:Bβ-148突变基因型通过直接影响血浆Fg浓度和与机体生理、环境等因素的交互作用对Fg的分子功能产生影响.而易发M

The correlation strdy of beta-fibrinogen gene-148 C/T、448G/A polymorphisms and the type of cerebral inarction

Objective: To study the association of beta-Fg gene-148 C/T and 448 G/A polymorphisms, plasma Fg concentration, molecular reactivity and the type of cerbral infarction (CD. Methods: 160 cerbral infarction patients from Kai-Luan hospital department of neurology were divided into two groups;arterial main-trunk cerebral infarction (MCI)and arterial penetratin cerebral infarction (PCI), 162 normal volunteer were selected as controls, The β-Fg gene-148 C/T and 448 G/A polymorphisms were determined by polymerase chain reaction-restriction fragment length polimorphism, the Fg concentration, molecular reactivity and some correlated index were also determined. Results: MCI patients had higher Fg concentration, Fibrinogen monome poly-velocity/Absorbance maximum (FMPV/AMAX ) than controls, and had higher FMPV/AMAX than PCI patients; In MCI patients, FMPV/AMAX of those with CC genotype and Fg concentration with T-148 allele were higher than PCI patients and controls;MCI and PCI patients with GG genotype only had higher FMPV than controls, MCI with A448 allele had higher Fg concentration, FMPV and FMPV/AMAX than controls, however, only FMPV/AMAX were higher than PCI patients; There were no significant differences in constitrent ratio of Bβ-148CC,CT, TT and Bβ448GG,GA,AA genotype amogn three groups, No significant differences in distribution frequency of cerebral infarction was seen in each genotype; In PCI patients, constituent ratio of mutational linkage genotype (CT + GA) was higher than controls, and linkage genotypes of MCI and PCI groups had hiigher Fg concentratin than controls. Conclusion: β-148 mutational genotypes impact on the Fg molecular reactivity by effecting on the Fg concentration and the interaction with othe physiological, environmental fetors, easily suffered MCI:Bβ448 mutation genotypes may directly impact on the Fg concentration; mutational linkage genotype (CT + GA) may easily result in the abnormal Fg concetration which may participate in the development of CI ,particularly PCI. Therefore, the polymorphisms of the two sites impact on the type of CI by effectiong on the plasma Fg concentration and molecular reactivity.