PEAR1 gene polymorphism in a Chinese pedigree with pulmonary thromboembolism.

ABSTRACT: To explore the correlation between platelet endothelial aggregation receptor-1 (PEAR1) genetic polymorphism and pulmonary thromboembolism (PTE).Variant loci of the PEAR1 gene were screened in a PTE pedigree, followed by verification using Sanger sequencing. These polymorphic loci were validated in 101 PTE patients and 132 matched normal patients using MassARRAY single nucleotide polymorphism (SNP) genotyping methods. The frequency differences between the allele and genotypes were compared using the Hardy-Weinberg equilibrium test and Chi-square test. The correlation between the PEAR1 gene SNP and PTE was analyzed by comparing the between-group variance differences using the χ test.Three SNPs were identified in the PTE pedigree. There was a heterozygous transition of T>C in rs1952294, and a

SUBMITTER: Fu Y 

PROVIDER: S-EPMC5181824 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature