HPA-1-6/17基因多态性与青岛市血小板减少症遗传易感性的关系分析

Analysis on the Relationship between HPA-1-6/17 Gene Polymorphism and Genetic Susceptibility to Thrombocytopenia in Qingdao

目的检测青岛市血小板减少症(ITP)患者血小板特异性抗原(HPA)-1-6/17基因多态性,并分析其与ITP疾病遗传易感性的关系。方法选取2013年~2016年青岛大学附属医院确诊收治的ITP患者126例为研究对象,选取青岛大学附属医院同期健康体检者120例为对照组,采用QIAamp DNA Blood Mini Kit试剂盒提取基因组DNA,利用PCR-SSP技术对HPA-1-6/17进行基因分型。结果青岛市ITP患者及正常人群HPA基因多态性符合Hardy-Weinberg定律(P>0.05);ITP组患者与正常人HPA1-2、HPA4-6、HPA17基因型频率及等位基因差异均无统计学意义(P>0.05);两组HPA-3基因型、等位基因频率差异有统计学意义(P<0.05),与对照组比较,ITP组患者HPA-3 aa基因型频率显著降低(P<0.05),HPA-3 bb基因型频率显著升高(P<0.05);ITP患者HPA-3a基因频率显著低于对照组(P<0.05),HPA-3b基因频率显著高于对照组(P<0.05);Logistic回归分析结果表明,HPA-3b基因频率升高与ITP遗传易感性有关(P<0.05)。结论HPA-3系统与ITP疾病发生有关,ITP患者HPA-3b基因频率显著高于对照组,可能是ITP发病的易感因素。

Objective To detect the polymorphism of platelet specific antigen(HPA)-1-6/17 gene in patients with thrombocytopenia(ITP)in Qingdao,and to analyze its relationship with genetic susceptibility to ITP disease.Methods 126 ITP patients diagnosed and treated in the Affiliated Hospital of Qingdao University from 2013 to 2016 were selected as the research objects,and 120 healthy people in the hospital during the same period were selected as the control group.Genomic DNA was extracted by QIAamp DNA Blood Mini Kit,and HPA-1-6/17 was genotyped by PCR-SSP.Results The HPA gene polymorphism of ITP patients and normal population in Qingdao conformed to Hardy-Weinberg law(P>0.05).There was no significant difference in genotype frequencies and alleles of HPA1-2,HPA4-6 and HPA17 between ITP group and normal people(P>0.05).There were significant differences in HPA-3 genotype and allele frequency between the two groups(P<0.05).Compared with the control group,the frequency of HPA-3 aa genotype in ITP group was significantly lower(P<0.05),and the frequency of HPA-3 bb genotype was significantly higher(P<0.05).The frequency of HPA-3a gene in ITP patients was significantly lower than that in control group(P<0.05),and the frequency of HPA-3b gene was significantly higher than that in control group(P<0.05).Logistic regression analysis showed that the increase of frequency of HPA-3b gene was associated with ITP genetic susceptibility(P<0.05).Conclusion sHPA-3 system is related to the occurrence of ITP.The frequency of HPA-3b gene in ITP patients is significantly higher than that in control group,which may be a susceptible factor for ITP.