Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count.

摘要: Little is known about the mechanisms explaining wide variation in platelet counts (PLT) and other hematologic parameters humans. We previously showed that sexbased difference hematocrit was associated with nucleotide erythropoietin receptor gene (EPOR). sought to identify new polymorphisms of human thrombopoietin (TPO) (TPOR) genes determine any associations blood PLT counts. screened TPO TPOR for using single-strand conformation polymorphism (SSCP) DNA sequencing. Association studied 304 normal subjects low or high Distribution allelic frequency analyzed by Chi-square statistic. Single (SNPs) two alleles were found TPOR. The SNP a G A transition at 5753, C transversion position 550 5 0 -promoter area. frequencies 0.54 0.46 TPO, 0.62 0.38 Caucasian population. allele ‘‘C’’ significantly higher count (>258 k/mm 3 ) versus ( 258 males (<212 ). In contrast, not related An association distribution red white cell seen. These SNPs help explain variations may be useful patient studies roles and/or disease. Am. J.