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目的:探讨蛋白C基因突变及基因型频率分布和脓毒血症患者血小板功能及血清TXB2水平的相关性。方法:纳入112例脓毒血症患者,健康人群50例为对照组。采用PCR-RFLP法测定所有受试者蛋白C基因rs 17999808C/A位点和rs1799809位点基因型及突变率。入院24小时内测定脓毒血症患者血小板计数、最大聚集率及血清TXB2水平,并对其进行SOFA评分。结果:病例组和对照组rs17999808位点和rs1799809位点间基因型分布频率无统计学差异(P>0.05)。rs 17999808基因型分布C/C占81.48%、C/A占12.96%、A/A占5.55%。rs1799809位点G/G占76.54%、G/C占15.43%、C/C占8.02%。rs17999808位点和rs1799809位点突变率分贝为12.03%、15.74%。病例死亡34例,死亡率30.35%。rs17999808位点突变纯合子患者(A/A)死亡率及SOFA评分明显增高,和野生纯合子及突变杂合子患者差异有统计学意义(P<0.05)。rs17999808位点C/C野生纯合子患者血小板计数和TXB2浓度明显高于C/A和A/A患者,血小板聚集率低于后两者,差异有统计学意义(P<0.05)。突变纯合子A/A患者较C/C、C/A患者两两相比,差异有统计学意义(P<0.05)。rs17999809位点突变和TXB2浓度有相关性(P<0.05)。结论:蛋白C基因rs17999808位点突变增加了脓毒血症患者死亡风险,这可能和其改变血小板功能有关。
Objective: To investigate the relationship between protein C gene mutation and genotype frequency distribution and platelet function and serum TXB2 level in patients with sepsis. Methods: One hundred and twelve patients with sepsis were enrolled, and 50 healthy people as control group. The genotype and mutation rate of rs17999808C / A locus and rs1799809 locus of protein C gene of all subjects were determined by PCR-RFLP. Twenty-four hours after admission, the platelet count, maximal aggregation rate and serum TXB2 level were measured in patients with sepsis and SOFA scores were evaluated. Results: There was no significant difference in genotype distribution between rs17999808 and rs1799809 in case group and control group (P> 0.05). rs 17999808 genotype C / C accounted for 81.48%, C / A accounted for 12.96%, A / A accounted for 5.55%. The rs1799809 locus G / G accounted for 76.54%, G / C accounted for 15.43%, C / C accounted for 8.02%. The mutation rates of rs17999808 and rs1799809 were 12.03% and 15.74% respectively. 34 cases died, the mortality rate was 30.35%. The mortality and the SOFA score of the rs17999808 mutation homozygous patients (A / A) were significantly higher than those of the wild homozygotes and the mutant heterozygotes (P <0.05). The platelet count and TXB2 concentration of rs17999808 wild-type homozygote patients were significantly higher than those of C / A and A / A patients, and the platelet aggregation rate was lower than the latter two groups (P <0.05). The mutation homozygous A / A patients compared with C / C, C / A patients every two pairs of differences was statistically significant (P <0.05). rs17999809 locus mutation and TXB2 concentration (P <0.05). Conclusion: The mutation of rs17999808 in protein C gene increases the risk of death in patients with sepsis, which may be related to the alteration of platelet function.