Filaggrin基因在鼻息肉中突变的研究  

Study on the mutation of Filaggringene in nasal polyps

作　　者：周倩[1] 白伟良[1] 李进兴 

机构地区：[1]中国医科大学附属盛京医院耳鼻咽喉科,沈阳110004

出　　处：《临床耳鼻咽喉头颈外科杂志》2018年第3期214-216,共3页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：辽宁省科学事业公益研究基金资助(No:2013001010);沈阳市科学计划项目资助(No:F11-264-1-07;F13-220-9-21)

摘　　要：目的:探讨中间丝聚合蛋白(FLG)基因突变与鼻息肉的关系。方法:提取48例病例组的鼻息肉组织和30例对照组下鼻甲黏膜的DNA,先用聚合酶链反应扩增目的基因R501X3321delA,再用聚丙烯凝胶电泳进行检测,最后采用直接测序法进行测序。结果:鼻息肉组织中有2例(4.17%)出现FLG基因突变位点c.3321delA,均为杂合突变,对照组无此突变,同时发现FLG新的突变位点c.1711C>A碱基序列由CAC→AAC,病例组出现12例(25.00%),2例(4.17%)是纯合突变,对照组仅1例(3.33%)是纯合突变,鼻息肉与正常黏膜比较,c.1711C>A的基因突变率的差异有统计学意义(P<0.05)。结论:FLG基因突变可能与鼻息肉发生、发展有关,有可能是鼻息肉发生原因之一。Objective：The aim of this study is to investigate the relationship between Filaggrin（FLG）gene mutations and nasal polyps.Method：Genomic DNA was extract from 48 nasal polyps tissues,and 30 samples of inferior turbinate tissues from normal human controls.Two FLGgene mutation points（R501 Xand 3321 delA）were detected by polymerase chain reaction（PCR）first,then detected by polypropylene gel electrophoresis,and finally gene sequencing.Result：The FLGgene c.3321delA was found in 2 cases（4.17%）of nasal polyps,both of them were heterozygous mutations.and the control group did not detected this mutation.At the same time,the new mutation site of FLG（c.1711 CA）was found 12 patients in cases group（25.00%）,two of which were homozygous mutation 4.17%（2/48）.Only one of homozygous mutation was found in the control group 3.33%（1/30）.The difference of c.1711 CA in mutation rate between the case group and the control group was statistically significant（P〈0.05）.Conclusion：The mutation of the FLGgene is associated with the occurrence and the development of nasal polyps,which may be one of the causes of nasal polyps.

关 键 词：鼻息肉 中间丝聚合蛋白 基因突变 

分 类 号：R765.25[医药卫生—耳鼻咽喉科]