FgBβ链三个基因多态性位点单体型与其功能表达和脑梗死的关联性分析  

Relationship of haplotypes of three polymorphisms in FgBβ-chain with its functional expression and cerebral infarction

作　　者：张楠楠[1] 元小冬[1] 徐建辉[1] 邓红亮[1] 王淑娟[1] 

机构地区：[1]华北煤炭医学院附属开滦医院,唐山063000

出　　处：《现代免疫学》2011年第5期383-388,共6页Current Immunology

摘　　要：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 impact of FgBβ-1420G/A,-993C/T and BsmAIG/C and their haplotypes on the concentration of functional expression of plasma fibrinogen,molecular reactivity and their relationship with acute cerebral infarction（ACI）,the genotype and allele frequencies of these sites in 108 patients with ACI and 113 healthy individuals were analyzed by polymerase chain reaction-restriction fragment length polymorphisms（PCR-RFLP） and the allele-special polymerase chain reaction（AS-PCR）.The plasma Fg concentration,values of FMPV,Amax,FMPV/Amax and other biochemical indicators were also measured.It was found that there was no difference in genotype and allele frequencies of these 3 loci between ACI group and control（P0.05）;FMPV and Amax in patients with ACI were significantly higher than that of control（P0.01）.In ACI group,Fg concentration,FMPV and Amax in patients with CT＋TT of-993 were higher than that with CC（P0.05）.In the major haplotypes of H2,H3,H6 and H7,the frequency distribution of H2 and H7 in ACI were significantly higher than that in control（P0.01）.It is evident from above observation that FMPV and Amax appear to be the risk factors for ACI,and the genotype of variation in haploype-993 could strengthen the Fg functional expression,and is one of risk factors to ACI under special condition.Those with haplotypes of H2 and H7 may have abnormal Fg functional expression under some special factors,and this may result in acute onset of cerebral infraction.

关 键 词：急性脑梗死 纤维蛋白原 基因多态性 单体型 功能表达 

分 类 号：R392.11[医药卫生—免疫学]