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为分析纤维蛋白原(Fg)Bβ链基因FgB-β1420G/A、-993C/T及BsmAIG/C位点多态性及其单体型对血浆Fg浓度和分子活性等功能表达的影响以及与脑梗死疾病的关系,选取首次新发急性脑梗死(ACI)患者108例,及对照组选取健康志愿者113例,测定了全部样本的血浆Fg浓度、纤维蛋白单体最大聚合速率(FMPV)、最大光密度值(Amax)、FMPV/Amax,及相关生化指标,并应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和等位基因特异性聚合酶链反应法(AS-PCR)检测各位点等位基因和基因型。结果显示,两组间三个多态性位点等位基因和基因型的频率分布无统计学差异(P>0.05);但ACI组FMPV和Amax明显高于对照组(P<0.01);但ACI组中-993C/T位点CT+TT组Fg浓度、FMPV、Amax高于CC组(P<0.05)。在三个位点构成的H2、H3、H6及H7四种主要单体型中,H2、H7在ACI中的分布频率明显高于对照组(P<0.01)。本研究中FMPV和Amax是发生ACI的重要危险因素,-993变异基因型在特定条件下可使血浆Fg功能表达增强,而成为ACI的高危因素;同时,H2、H7单体型携带者可以在特定因素作用下导致不同类型的血浆Fg功能表达异常,而引发ACI。
To investigate the effect of Fg Bβ chain gene FgB-β1420G / A, -993C / T and BsmAIG / C polymorphisms and their haplotypes on functional expression of plasma Fg concentration and molecular activity, In this study, 108 patients with first new onset of acute cerebral infarction (ACI) and 113 healthy volunteers from the control group were selected for determination of plasma Fg concentration, maximum fibrin monomer polymerization rate (FMPV), maximum (Amax), FMPV / Amax, and related biochemical markers were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele- specific polymerase chain reaction ) To detect alleles and genotypes at each locus. The results showed that there was no significant difference in allele frequencies and allele frequencies among the three polymorphic loci (P> 0.05). However, FMPV and Amax in ACI group were significantly higher than those in control group (P <0.01) Fg concentration, FMPV and Amax in CT + TT group at -993C / T in ACI group were higher than those in CC group (P <0.05). Among the four major haplotypes H2, H3, H6 and H7, the distribution frequencies of H2 and H7 in ACI were significantly higher than those in control group (P <0.01). In this study, FMPV and Amax are important risk factors for ACI. -993 mutant genotypes can enhance the expression of Fg in plasma under certain conditions and become the risk factors for ACI. At the same time, the haplotypes H2 and H7 can be expressed in Specific factors lead to different types of plasma Fg abnormal expression, and lead to ACI.