变应性鼻炎部分相关单体型模块基因单核苷酸多态性研究  

Study on single nucleotide polymorphisms of partial allergic rhinitis-associated haplotype module genes

作　　者：滕伟强[1] 陈晓平[2] 张燚[2] 周恩晖 姚文昊 李力[1] 

机构地区：[1]上海长征医院耳鼻咽喉头颈外科,上海200003 [2]上海市浦东新区公利医院耳鼻喉科,上海200135 [3]宁夏医科大学,宁夏银川750004

出　　处：《山东大学耳鼻喉眼学报》2016年第4期26-29,共4页Journal of Otolaryngology and Ophthalmology of Shandong University

基　　金：浦东新区科技发展基金创新资金(PKJ2012-Y27);浦东新区科技发展基金创新资金(PKJ2014-Y22);上海市卫生和计划生育委员会面上项目(201440517);上海市浦东新区公利医院青年科研项目基金

摘　　要：目的检测患者染色体上有无变应性鼻炎相关基因单体型模块SDAD1、CXCL10、CXCL11、Eo BL的存在,有无单核苷酸多态性(SNP)的存在及遗传因素对这些SNP有无影响。方法提取有遗传背景组和散发组的变应性鼻炎患者的血液样本DNA,通过PCR引物设计、合成、扩增后进行基因测序。结果实验在2组中一共检测出46个位点,其中发生突变的位点有34个,总的突变率为78.3%。变应性鼻炎的基因突变在有遗传背景组(66.67%)和散发组(78.57%)之间差异无统计学意义(P=0.58)。结论变应性鼻炎患者染色体上单体型模块SDAD1,CXCL9,CSCL10及CXCL11基因连续表达,变应性鼻炎相关基因SDAD1、CXCL10、CXCL11、Eo BL上有SNP的广泛存在,但遗传因素对这些突变无明显的影响。Objective To detect whether there exist allergic rhinitis-associated hapoltype module genes（ SDAD1,CXCL10,CXCL11 and Eo BL） and single nucleotide polymorphisms（ SNP） on chromosome as well as whether these genes affect on SNP. Methods The blood sample DNA of patients with allergic rhinitis in hereditary background group and distribution group was extracted,and gene sequencing was conducted follow ing polymerase chain reaction（ PCR）primer design,synthesis and amplification. Results A total of 46 sites were detected in both groups,of which 34 had mutations,with total mutation rate being 78. 3%. And there was significant difference in the gene mutation of allergic rhinitis betw een hereditary background group（ 66. 67%） and distribution group（ 78. 57%）（ P = 0. 58）. Conclusion SDAD1,CXCL9,CSCL10 and CXCL11 genes are expressed successively on chromosome haplotype modules in patients with allergic rhinitis,and SNP is extensively distributed on allergic rhinitis-associated genes,including SDAD1,CXCL10,CXCL11 and Eo BL,but hereditary factors have insignificant influence on these mutations.

关 键 词：变应性鼻炎 单体型模块基因 单核苷酸多态性 

分 类 号：R765.21[医药卫生—耳鼻咽喉科]