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Study On Association Between Cerebral Infarction And Single Nucleotide Polymorphisms In Promoter Region Of B Beta Fibrinogen Gene

Posted on:2003-10-20Degree:MasterType:Thesis
Country:ChinaCandidate:Y M CaiFull Text:PDF
GTID:2144360065456904Subject:Internal Medicine
Abstract/Summary:PDF Full Text Request
Objective Fibrinogen (Fg) is an important risk factor in cerebral infarction. B ?Fg protein is the rate-limiting step in the overall synthesis of the mature Fg protein. Differences of FgB P gene play a major role in synthesis of fibrinogen. The current study was conducted to analyze the distribution characters of single nucleotide polymorphisms (SNPs)-148C/T, -455G/T and -854G/A in the promoter region of FgB P gene. We expected to research the relationship between FgB P SNP and cerebral infarction in Chinese Southern Hans that might provide a genetic basis for cerebral infarction.Methods A case-control study of 202 cases and 204 controls was carried out with molecular epidemiological study and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The FgB genotypes and gene frequencies were analyzed. Three SNPs Hardy-Weinberg equilibrium, linkage disequlibrium and the relationship between FgB 3 SNP(s) and cerebral infarction development were investigated, and correlations between FgB P SNP(s) and clinical types as well as prognosis also were evaluated.Results A total of 9 genotypes among 406 individuals were identified in 3 SNPs. The allele distribution of SNPs was in good unity with Hardy-Weinberg eqilibrium. The frequencies of the rare alleles -148T and -455A and the genotypes of -148CT+TT(-455GA+AA) are significantly higher in cerebral group than in control group. However, the differences of allele frequencies and three genotypes of -854G/A SNP have not been founded between two groups. The relationship between -455G and -148C was a completely condordent, but there was a random distribution between -854 and -148(-455) SNPs. The difference of -148C/T (-455G/A) gene frequencies was not significant among clinical types and prognosis.Conclusion -148C/T and -455G/A SNPs both associate with cerebral infarction development but no obvious association is found between -854G/A and the disease. -148CT+TT and -455GA+AA are susceptible genotypes and -148T and -455A are susceptible alleles. There is a complete linkage disequilibrium between -148C/T and -455G/A and a negative linkage disequilibrium between -854 G/A and -148 C/T (-455G/A). The results do not support a correlation between -148C/T and -455G/A gene frequencies and clinical types or prognosis .
Keywords/Search Tags:fibrinogen, cerebral infarction, gene, single nucleotide polymorphism, association, linkage disequilibrium
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