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李仲桃, 汪盛. 四川地区汉族单纯性泛发性脓疱型银屑病患者IL36RN基因多态性研究[J]. koko体育app 学报(医学版), 2018, 49(4): 582-586.
引用本文: 李仲桃, 汪盛. 四川地区汉族单纯性泛发性脓疱型银屑病患者IL36RN基因多态性研究[J]. koko体育app 学报(医学版), 2018, 49(4): 582-586.
LI Zhong-tao, WANG Sheng. Genetic Polymorphism of IL36RN in Han Patients with Generalized Pustular Psoriasis Alone in Sichuan Region[J]. Journal of Sichuan University (Medical Sciences), 2018, 49(4): 582-586.
Citation: LI Zhong-tao, WANG Sheng. Genetic Polymorphism of IL36RN🎶 in Han Patients with Generalized Pustular Psoriasis Alone in Sichuan Region[J]. Journal of Sichuan University (Medical Sciences), 2018, 49(4): 582-586.

四川地区汉族单纯性泛发性脓疱型银屑病患者IL36RN基因多态性研究

Genetic Polymorphism of IL36RN in Han Patients with Generalized Pustular Psoriasis Alone in Sichuan Region

  • 摘要: 目的 检测四川地区汉族单纯性泛发性脓疱型银屑病(GPP)患者白介素-36受体拮抗剂基因(IL36RN)的多态性,初步明确该地区单纯性GPP患者的发病机制。 方法 提取GPP患者、寻常型银屑病(PV)患者和正常对照人群的基因组DNA,采用PCR方法扩增各组人群IL36RN目的基因片段,电泳鉴定后进行基因测序,分析IL36RN基因多态性在不同人群中的分布差异,同时比较koko体育app 期发病的GPP(PGPP)及成人期发病的GPP(AGPP)患者IL36RN的变异频率。 结果 在四川地区汉族单纯性GPP患者中发现3个IL36RN基因变异位点(c.115+6T > C、c.140A > G、c.227C > T),其中c.115+6T>C变异最常见。单纯性GPP患者的IL36RN基因变异频率与PV组、正常对照组比较差异均有统计学意义(P<0.05),但PGPP组与AGPP组IL36RN基因变异频率比较,差异无统计学意义(P>0.05)。 结论 IL36RN基因可能是四川地区汉族单纯性GPP患者最常见的致病基因,c.115+6T>C是一突变热点。单纯性GPP的IL36RN变异频率可能与发病年龄无关。  
    Abstract: Objective To detect interleukin-36-receptor antagonist gene (IL36RN) in Han patients with generalized pustular psoriasis (GPP) alone in Sichuan region for the purpose of clarification of GPP pathogenesis. Methods Genomic DNA of GPP patients, psoriasis vulgaris (PV) patients and normal controls was extracted and subjected to PCR for the amplification of entire encoding and splice sites of IL36RN gene followed by bidirectional sequencing. Differences in frequencies of IL36RN variants between three groups were analyzed. The variant frequency between pediatric-onset GPP (PGPP) and adult-onset GPP (AGPP) was also compared. Results Three IL36RN variants (c.115+6T > C, c.140A > G, c.227C > T) were found in Han GPP patients from Sichuan. Among them, c.115+6T>C had the highest frequency. Compared with PV patients and normal controls, all the variants frequency had statistical significance (P<0.05). There was no significant difference of variants frequency of IL36RN between PGPP and AGPP group (P>0.05). Conclusion IL36RN may be the most common disease-causing gene in the patients with GPP alone in Han population from Sichuan region.  
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