【摘要】 目的：分析福建龙岩地区淋巴瘤相关噬血细胞综合征患者的基因多态性。方法：选择2017年5月-2020年11月福建医科大学附属龙岩第一医院收治的福建龙岩地区淋巴瘤相关噬血细胞综合征患者125例，采集患者外周静脉血，通过PCR-荧光探针法检测穿孔素1(PRF1)、白介素-10(IL-10)基因各位点基因型，分析PRF1、IL-10基因各位点基因多态性与淋巴瘤相关噬血细胞综合征的相关性。结果：淋巴瘤相关噬血细胞综合征患者PRF1基因位点rs885821(C>T)、rs885822(C>T)、rs1889490(G>A)的基因突变频率分别为10.4%、78.8%、64.4%;IL-10基因位点rs1800872(A>C)、rs1800871(C>T)、rs1800896(G>A)的基因突变频率分别为56.0%、45.2%、77.6%。结论：福建龙岩地区淋巴瘤相关噬血细胞综合征患者PRF1、IL-10基因位点呈多态性，PRF1、IL-10等位基因C、G是其危险性因素，等位基因T、A是其保护性因素。更多还原

【Abstract】 Objective:To analyze the gene polymorphisms of patients with lymphoma-associated hemophagocytic syndrome in Longyan area,Fujian province.Methods:A total of 125 patients with lymphoma-associated hemophagocytic syndrome in Longyan,Fujian province,admitted to Longyan First Hospital from May 2017 to November 2020 were selected.Peripheral venous blood was collected from all the patients,and the genotypes of perforin 1 (PRF1) and interleukin-10 (IL-10) gene loci were detected by PCR-fluorescence probe method,and the correlation between PRF1 and IL-10 gene polymorphisms and lymphoma-associated hemophagocytic syndrome was analyzed.Results:The mutation frequencies of PRF1 gene loci rs885821 (C>T),rs885822 (C>T),rs1889490 (G>A) in patients with lymphoma-associated hemophagocytic syndrome were 10.40%,78.8%and 64.4%,respectively.The mutation frequencies of rs1800872 (A>C),rs1800871 (C>T) and rs1800896 (G>A) of IL-10 loci were 56.0%,45.2%and 77.6%,respectively.Conclusion:PRF1and IL-10 gene loci were polymorphic in patients with lymphoma-associated hemophagocytic syndrome in Longyan area,Fujian province.Alleles C and G of PRF1 and IL-10 were risk factors,and alleles T and A were protective factors.更多还原