摘要
目的探讨血小板特异性抗原(HPA)基因多态性和交互作用与新生儿血小板减少症(NT)的关联,为NT的发病机制研究提供实验依据。方法收集2022年01月至2023年10月在新生儿科住院治疗的NT患者105例为NT组,同期未诊断为NT的患儿124例为对照组,采集外周血,用扩增阻滞突变系统PCR(ARMS-PCR)法检测患儿HPA基因型,熔解曲线法分析扩增产物特异性。多因子降维分析(GMDR)软件GMDR 0.7评估HPA系统基因-基因交互作用在NT中的风险。结果NT组和对照组的妊娠合并症发生率、新生儿窒息发生率、血小板抗体阳性率差异有统计学意义(P<0.05);性别、出生体质量、胎龄、不良孕史、肺部感染、新生儿败血症、出血、凝血异常、黄疸等相关指标在两组分布无统计学意义(P>0.05);HPA1~6,15共七对等位基因位点频率分布在NT组和对照组中差异无统计学意义(P>0.05);HPA多态性1阶~7阶交互作用模型中第2阶(HPA-3,15)模型的均衡检验准确度(0.7821)最高,交叉验证一致性(10/10)最大,且有统计学意义(P=0.001)。3、4阶模型次之,均衡检验准确度为0.7695,交叉验证一致性为9/10,有统计学意义(P<0.05)。结论2阶、3阶、4阶交互作用有统计学意义。其中2阶模型的均衡检验准确度(0.7821)最高,交叉验证一致性(10/10)最大,HPA-3和HPA-15在NT的发生中存在交互作用。
Objective To explore the interaction between the polymorphism of human platelet antigens(HPA)and neonatal thrombocytopenia(NT),and to provide experimental basis for the study of the pathogenesis of NT.Methods A total of 105 patients with NT who were hospitalized in the Department of Neonatology(from January 2022 to October 2023)were included in the NT group,and 124 children with undiagnosed NT were included in the control group.Peripheral blood was collected and genotyping of HPA was performed via amplification refractory mutation system PCR(ARMS⁃PCR)and the specificity of the amplified products was analyzed by melting curve detection analysis with real time quantitative PCR.Generalized Multifactor Dimensionality Reduction(GMDR)software GMDR 0.7 was used to assess the risk of gene⁃gene interactions in NT for HPA systems.Results There were significant differences in pregnancy complication incidence,neonatal asphyxia incidence and anti⁃platelet antibody positive rate between NT group and control group(P<0.05).There was no statistically significant difference in gender,birth weight,gestational age,adverse pregnancy history,pulmonary infection,neonatal septicemia,hemorrhage,coagulation abnormality and neonatal jaundice between the two groups(P>0.05).There was no significant difference in the frequency distribution of HPA1⁃6,15 pairs of alleles between NT group and control group(all P>0.05).Among the HPA polymorphism 1⁃7 interaction models,the second⁃order(HPA⁃3,15)model had the highest testing balance accuracy(0.7821)and the best CV consistency(10/10),which was statistically significant(P=0.001).The third and fourth order models were second only to the second⁃order(HPA⁃3,15),with a balanced test accuracy of 0.7695 and a cross validation consistency of 9/10,which was statistically significant(P<0.05).Conclusion The second,third and fourth order models were related to the occurrence of NT,and the second order model was the best model,suggesting a potential interaction between HPA⁃3 and HPA⁃15 in t
作者
高润光
杨坤
李北
岳晓静
张晓科
毕美霞
Gao Runguang;Yang Kun;Li Bei;Yue Xiaojing;Zhang Xiaoke;Bi Meixia(Department of Laboratory Medicine,Jiaozuo Women’s and Children’s Hospital,Jiaozuo 454002,China;Department of Neonatology,Jiaozuo Women’s and Children’s Hospital,Jiaozuo 454002,China;Department of Laboratory Medicine,Jiaozuo Hospital of Traditional Chinese Medicine,Jiaozuo 454000,China)
出处
《血栓与止血学》
CAS
2024年第3期106-112,共7页
Chinese Journal of Thrombosis and Hemostasis
基金
河南省焦作市科技局科技计划项目(202154159)。
