[The application of denaturing high performance liquid chromatography in detection of novel polymorphisms in PAI-1gene].
OBJECTIVE
To detect single nucleotide polymorphisms(SNPs) in codon region of plasminogen activator inhibitor-1 (PAI-1) gene and associate them with development of coronary artery disease(CAD).


METHODS
Denaturing high performance liquid chromatography(DHPLC) and DNA sequencing were used to scan all of exons in PAI-1 gene in 93 CAD patients and 123 control subjects.


RESULTS
Two polymorphisms in exon 2, G43A and G49A, which results in missense mutation Ala15Thr and Val17Ile, were found. Heterozygotes for these variants as well as wild type homozygotes were only found in all subjects. The association of genotypes with CAD development and with PAI 1 antigen level were evaluated. The comparison of genotype frequency distribution between two groups revealed that there were more heterozygous carriers of mutation at both polymorphic sites in control than in CAD subjects, but there was no statistically significant difference between them. And genotypes of both polymorphisms were not associated with PAI-1 level.


CONCLUSIONS
Two SNPs in exon 2 of PAI-1 gene were identified by DHPLC method. Both polymorphisms were not associated with the incidence of CAD.
Wang
Xu-dong
XD
Emergency Department, Affiliated Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730 PR China. wangxd5812@hotmail.com
Fu
Yan
Y
Jiang
Hui-jie
HJ
Morisaki
Hiroko
H
Morisaki
Takayuki
T
D000368:Aged; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D003324:Coronary Artery Disease / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D017395:Plasminogen Activator Inhibitor 1; D004247:DNA