作　　者： (王晓华）; (张娇）; (姜亚楠）; (李海燕）; (禹欢欢）; (薛耀华）; (陈永锋）;

机构地区： 南方医科大学皮肤病医院 广东省皮肤病医院,广东广州510091

出　　处： 《皮肤性病诊疗学杂志》 2017年第4期232-237,共6页

摘　　要： 目的:研究IL36RN基因突变与寻常型银屑病及脓疱型银屑病的相关性。方法:采用PCR扩增IL36RN基因所有外显子及其侧翼序列并进行Sanger测序,比较寻常型银屑病组(PV,34例)、泛发性脓疱型银屑病组(GPP,26例)与健康对照组(66例)各组之间基因突变率。结果:测序共发现5个IL36RN突变位点,其中c.115+6T>C为最常见的突变位点。IL36RN总的基因突变率在PV组、GPP组及健康对照组的突变率分别为5.9%、57.6%、7.6%。GPP组与PV组总突变率比较,差异有统计学意义(P<0.01),与健康对照组总突变率比较,差异亦有统计学意义(P<0.01),但PV组与健康对照组总突变率无明显差异(P>0.05)。c.115+6T>C的突变率在GPP组和PV组亦有明显差异(P<0.01)。结论:GPP和PV可能是两组具有遗传异质性的疾病。IL36RN可能为GPP发病的易感基因,其可能可作为脓疱型银屑病发病的潜在基因靶点。 Objective ： To study the correlation between IL36RN gene mutation and psoriasisvulgaris, pustular psoriasis. Metliods ： A l exons and flanking sequences of 11,36RN gene were am-plified by polymerase chain reaction （PCR） and sequenced. The mutation rate of 11^36RN gene in psoriasis vulgaris groups （PV,34 cases）,the generalized pustular psoriasis group （GPP,26 cases） and healthy control （66 cases） were compared. Results ：Five IL36RN mutations were found in the sequencing, and c. 115 ＋ 6T 〉 C was the most common mutation. The total mutation rates of IL36RN were 5. 9% ,57. 6% and 7. 6% in the PV group, GPP group and the healthy controlgroup,respectively. The total mutation rate between GPP group and PV group was statistically significant （P 〈0. 01） , and the rate between GPP group and healthy control was statistically signifi-cant （P 〈 0. 01） . There was no significant difference in the total mutation rate between PVgroupand healthy control group （P 〉0.05） . Conclusion ： IL36RN may be a susceptible gene for GPP.GPP and PV may be two heterozygous diseases. IL36RN may be a potential target for pustular pso-riasis.

关 键 词： 寻常型银屑病 脓疱型银屑病 基因突变