[The application of denaturing high performance liquid chromatography in detection of novel polymorphisms in PAI-1gene].

Objective To detect single nucleotide polymorphis ms(SNPs) in codon re gion of plasminogen activator inhibitor-1 (PAI-1) gene and associate them with d evelopment of coronary artery disease(CAD). Methods Denaturing high performance liquid chromatography(DHPLC) and DNA sequencing were used to scan all of exons i n PAI-1 gene in 93 CAD patients and 123 control subjects. Results Two polymorphi sms in exon 2, G43A and G49A, which results in missense mutation Ala15Thr and Va l17Ile, were found. Heterozygotes for these variants as well as wild type homozy gotes were only found in all subjects. The association of genotypes with CAD dev elopment and with PAI-1 antigen level were evaluated. The c omparison of genotype frequency distribution between two groups revealed that there were more heterozygous carriers of mutation at both polymorphic sites in control than in C AD subjects, but there was no statistically significant difference between them. An d genotypes of both polymorphisms were not associated with PAI-1 level. Conclusion Two SNPs in exon 2 of PAI-1 gene were i dentified by DHPLC method. Both polymorphisms were not associated with the incidence of CA D.