PTPN22基因多态性与儿童血小板减少性紫癜易感性的关联分析  

Correlation Between PTPN22 Gene Polymorphism and Susceptibility of Idiopathic Thrombocyto- penic Purpura in Children

作　　者：每玄玄 李天宇[1] 徐大明[1] 张茜[1] 

机构地区：[1]南京医科大学附属无锡市人民医院血液科,江苏无锡214000

出　　处：《医学临床研究》2017年第5期889-892,共4页Journal of Clinical Research

基　　金：南京医科大学科技发展基金面上项目（2013NJMU176）

摘　　要：【目的】分析非受体型蛋白酪氨酸磷酸酶22（PTPN22）基因多态性与儿童血小板减少性紫癜（ITP）易感性的关联性。【方法】通过复合PCR和基质辅助激光解电离析飞行时间质谱（PCR—MALDI-TOF-MS）法对120例ITP患儿（观察组）及80例正常儿童（对照组）PTPN22基因-1123G〉C（rs2488457）测定。【结果】观察组PTPN22—1123G〉C等住基因中C频率62．50％，较对照纽的71．25％差异有统计学意义（P〈0．05）；两组基因型比较差异无统计学意义（P〉0．05）；观察组与对照组男童等位基因频率比较差异显著（P〈0．05），女童比较无显著差异（P〉0．05），两组同一性别基因型比较差异均无统计学意义（P〉0．05）。【结论】PTPN22-1123G〉C多态性与儿童ITP易感性有关，C为优势等位基因，G为风险等位基因，PTPN22—1123G〉C等位基因频率分布可能与儿童性别相关。[Objective] To analyze the correlation between non-receptor protein tyrosine phosphatase 22 （PTPN22） gene polymorphism and the susceptibility of idiopathic thrombocytopenie purpura （ITP） in children. [Methods]Gene polymorphism of PTPN22-1123G〉C （rs2488457） in 120 children with ITP （the observation group） and 80 normal children （the control group） was determined by PCR-MALDI-TOF MS method. [Results]The C frequency of PTPN22-1123G 〉 C allele in the observation group was 62.50% ,which was significantly lower than that in the control group （71.25%） （ P 〈0.05）, while there were no significant differences in genotypes between the two groups （ P 〉0.05）. The allele frequency showed significant differences in boys in the two groups （ P 〈0.05）, while there were no significant differences in girls （ P 〉0.05）. There were no significant differences in genotypes in children with the same gender （ P 〉0.05）. [Conclusion]The PTPN22-1123G〉C polymorphism is associated with susceptibility of ITP in children. C is the dominant allele while G is the risk allele. The allele frequencies of PTPN22-1123G C may be related to the gender of children.

关 键 词：蛋白质酪氨酸磷酸酶 非受体22型/遗传学 多态现象 遗传 紫癜 血小板减少性 疾病遗传易感性 

分 类 号：R725.582[医药卫生—儿科]