中文摘要：

目的 ：检测成人斯蒂尔病（adult-onset Still′s disease,AOSD）患者g DNA内的NIRP3基因Q705K多态性,并探讨其基因多态性与AOSD发病间的相关性。方法：收集49例AOSD患者及94名正常人的g DNA,对目的 NLRP3片段进行扩增,检测其碱基序列,同时与PUBMED已解码的人源NLRP3进行比对。结果：本研究AOSD患者及正常人中未发现NLRP3基因Q705K突变位点,在比对中发现的A242A（rs3806268）和T219T（rs7525979）位点存在基因多态性,但与亚洲人群基因型频率进行比对后,发现其与AOSD的发病间无统计学相关性。结论：NLRP3基因Q705K多态性与AOSD的发生不相关。

英文摘要：

Objective： To investigate the correlation between Q705 K polymorphism in NLRP3 and adult-onset Still′s disease（AOSD）. Methods： Forty-nine AOSD patients were enrolled and 94 healthy subjects were served as controls. The objective gene fragments in g DNA from 49 AOSD patients and 94 healthy subjects were amplified and base sequencing was performed. The sequencing results were compared with the published decoded human gene on PUBMED. Results：Genetic mutations were not found in AOSD patients. Polymorphism sites A242 A and T219 T were not involved in the occurrence of AOSD. Conclusions： Polymorphism of Q705 K in NLRP3 is not correlated with the occurrence of AOSD.