【摘要】 目的探讨分析穿孔素基因在手足口病中的变异及临床意义。方法方便选取2016年9月—2017年2月之间在遵义医学院附属医院儿科住院资料完整并符合诊断标准的手足口病患者作为试验组,按病情轻重分为普通病例组(n=40)、重型病例组(n=40)和随机抽取健康体检儿童40名为正常对照组,检测穿孔素基因表达情况。结果手足口病患儿中,c.900C>T (p.His300=),同义突变(纯合突变),正常对照组3例,普通病例组出现4例,重型病例组14例,重型突变的比例显著高于正常对照组和普通病例组患儿(χ~2=9.038,7.169,P<0.05)。正常对照组NK细胞活性≤15%5例,普通病例组有13例,重型病例组有32例,其中重型病例组出现比例显著高于正常对照组与普通病例组(χ~2=36.656,18.337,P<0.05)。结论重症手足口病患儿的穿孔素基因突变情况与普通型患儿和正常儿童存在一定的差异。更多还原

【Abstract】 Objective To investigate the variation and clinical significance of perforin gene in hand, foot and mouth disease.Methods From September 2016 to February 2017, patients with hand, foot and mouth disease who had complete pediatric hospitalization data and met the diagnostic criteria in the affiliated hospital of Zunyi Medical College were selected conveniently as the experimental group, and were divided into the general case group according to the severity of the disease(n=40). In the severe case group(n=40) and 40 healthy children who were randomly selected as healthy control group, the expression of perforin gene was detected. Results Among children with hand, foot and mouth disease, c.900 C>T(p.His300=),synonymous mutation(homozygous mutation), 3 cases in normal control group, 4 cases in the general case group, 14 cases in the severe case group, proportion of severe mutation, significantly higher than the normal control group and the general case group of children(χ~2= 9.038, 7.169, P<0.05). In the normal control group, NK cell activity was ≤15% in 5 cases, 13 cases in the general group, and 32 cases in the serere case group. The proportion of severe cases was significantly higher than that of the normal control group and the general case group(χ~2=36.656, 18.337, P<0.05). Conclusion The mutation of perforin gene in children with severe hand, foot and mouth disease is different from that of ordinary chidren and normal children.更多还原