Objective To investigate the impact of Fbg-Bβ 1689T/C,161/D,345C/T and Hinf 1 A/C and their haplotypes on functional expression of plasma fibrinogen( Fbg) concentration and molecular reactivity , and the relationship of them with cerebral infarction( CI) . Methods The genotype and allele frequencies of four sites were analyzed by polymerase chain reaction- resLriction fragment length polymorphisms ( PCR-RFLP) and sequencing in 96 Cl patients and 107 healthy controls. Fbg concentration, FMPV,Amax , FMPV/Amax and glucose were measured. Results There was no difference in genotype and allele frequencies of four locis between CI group and control ( P ＜0. 05 ) ; FMPV and Amax in patients with CI was significantly higher than that of controI(P ＜0. 01) . In control, FMPV and Amax in patients with AC + CC of Hinf 1 was higher than that with AA(P ＜0. 05). Amax with TG +GG of 1689 in CI group was higher than that with TT (P ＜0. 05) . Between CI group and control, no difference was found in haplotype frequencies of H1 , H4 , H5 and H7 ( X2 =1. 95 ,P ＞0. 05 ) . Conclusion In four sites ,only variation genotypc of Hinf l in 3 ' region can promot expression of FMPV and Amax , and Ones with variation genotype of Hinf 1 may be inclined to have much too risk of CI onset. There was no direct link between CI and major haplotypes of H1 , H4 .H5 and H7 composed of four polymorphisms, but they can influence functional expression of plasma fibrinogen concentration.%目的 分析血浆纤维蛋白原(Fbg)Bβ链,1689T/G、16I/D、345C/T及Hinf 1A/C位点的基因多态性及其单体型对血浆Fbg浓度和分子活性等功能表达的影响及其与脑梗死疾病的关系.方法 选取首次新发急性脑梗死患者96例为病例组,107例健康者为正常对照组;用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)及基因测序法检测等位基因和基因型频率;测定Fbg浓度、纤维蛋白单体最大聚合速率(FMPV)、最大光密度值(Amax)、FMPV/Amax,及血糖等生化指标.结果 4个多态性位点的等位基因和基因型频率分布在两组之间的差异无统计学差异(P＞0.05);脑梗死组FMPV和Amax明显高于正常组(P＜0.01);正常组中Hinf1位点AC+CC组的FMPV和Amax高于AA组(P＜0.05);CI组中1689 TG+GG组的Amax高于TT组(P＜0.05).四个位点主要构成了H1、H4、H5及H7等4种单体型,它们在两组间的频率分布无统计学差异(X2=1.95,P＞0.05).结论 Fbg Bβ链1689、16I/D、345C/T及Hinf 1A/C基因多态性位点中,仅3'端Hinf1变异基因型可使血浆FMPV和Amax等急性脑梗死的重要危险因素表达增强,而使其携带者成为发生脑梗死疾病的高危人群.同时,这些基因多态性位点构成的H1、H4、H5及H7等常见单体型与脑梗死疾病没有明显的直接关系,但它们均可以影响相应的血浆Fbg功能表达.
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