| Objective:To investigate the relationship between genetic polymorphisms of PEAR1 gene and the pathogenesis of pulmonary thromboembolism. Methods:by whole-exo-me sequencing and the first generation of Sanger sequencing were screened and con-firmed one pulmonary thromboembolism family gene PEAR1 variation sites, again to mass spectrometry massarray SNP points technology in diagnosis of 101 cases of spo-radic pulmonary thromboembolism patients and 132 cases of healthy control weredet-ected PEAR1 gene polymorphism, by using the Hardy-weinberg balance test, X~2 test and after exclusion of confounding factors, to compare between the two groups of ge-notype and allele frequency differences, and to analyze its correlation with PTE. Res-ults:a total of 4 loci were screened out in the PEAR1 gene of pulmonary embolism p-atients, which were rs778026543, rs1952294, rs822442 and rs12137505.Gene rs7780-26543 sites has two members from cytosine into thymine in the family, no variation in the 233 person of case group and control group; gene rs1952294 variable loci in fam-ily four members, as well as case group and control group 233 people have the muta-tion, and mutation sites is changed from thymidine to cytosine; gene rs822442 and rs-12137505 variable loci exist in the family,which in accordance with Hardy-weinberg equilibrium of case-control group,but theirs genotype and allele frequency distribution in confounding factors before and after removal had no statistical significance (P> 0.05). Conclusion:Pulmonary thromboembolism family screening were found in four PEARl gene mutation sites:rs778026543, rsl952294, rs822442 and rsl2137505; the rs778026543 of PEAR1 gene found in the family is recently discovered mutation sites and belong to rare genetic mutation,and in the family this locus may be associated with pulmonary thromboembolism; PEAR1 gene of the remaining three sites rs19-52294, rs822442 and rs12137505 and pulmonary thromboembolism without sign-ificant correlation. |
PDF Full Text Request