支气管哮喘患者LAT及其上游调控因子SNP位点初筛  

The preliminary screening for SNPs in transcription factor LAT gene and its upstream regulating factors of asthma

作　　者：王春燕[1] 郭雪君[2] 任涟萍[2] 

机构地区：[1]上海交通大学医学院新华医院老年医学科,上海200092 [2]上海交通大学医学院新华医院呼吸内科,上海200092

出　　处：《国际呼吸杂志》2014年第19期1461-1465,共5页International Journal of Respiration

基　　金：上海市科学技术委员会基础研究重点项目（04JC14048）

摘　　要：目的 探讨支气管哮喘（简称哮喘）患者T淋巴细胞活化衔接子（LAT）基因及其上游调控因子存在（或不存在）单核苷酸多态性（SNP）位点,从而明确哮喘患者外周血T细胞中LAT及其上游调控因子LCK和ZAP-70转录水平异常是否是由于相应基因多态性引起.方法 对24例哮喘患者及24例非特应症对照者,采用直接测序法检测LAT及其上游调控子（ZAP-70、LCK）的启动子、外显子区域SNP位点出现的频率,使用统计软件SPSS 13.0将2组间SNP出现频率进行x2检验（理论频数＜5时使用Fisher＇s Exact Test）.结果 在所有片段的测序结果中共发现15个SNP位点,与NCBI dbSNP数据库中的目标序列匹配后发现其分别为位于LAT序列上的Rs11859822、Rs7140、Rs41280846、Rs41292396、Rs1131543、Rs4788115、Rs1802141;LCK序列上的：Rs10914540和ZAP-70序列上的：Rs13034349、Rs2276645、Rs2276644、Rs2289918、Rs13002912、Rs17488834、Rs2278699.使用统计软件SPSS 13.0将两组间SNP出现频率进行x2检验（理论频数＜5时使用Fisher＇s Exact Test）,结果显示P值均＞0.05,差异无统计学意义.结论 未于LAT基因及其上游调控因子的启动子及外显子部位找到与哮喘发病相关的SNP位点.Objective To investigate if there＇re SNPs in transcription factor linker for activation of T cell （LAT） and its upstream regulating factors （LCK,ZAP-70） and detect whether the abnormal mRNA expression of LAT,LCK and ZAP-70 genes was caused by the polymorphism.Methods Polymerase chain reaction （PCR） and straight sequencing were used to detect the SNPs in the promoter and exons of LAT and its upstream regulatory factors （LCK and ZAP-70） in 24 asthmatic patients and 24 nonallergic subjects.Then we made x2 test on the three SNP freq.by software SPSS 13.0.Results We totally found 15 SNP sites.And these SNP sites are located on Rs11859822,Rs7140,Rs41280846,Rs41292396,Rs1131543,Rs4788115,Rs1802141 of LAT series,Rs10914540 of LCK series,and Rs13034349,Rs2276645,Rs2276644,Rs2289918,Rs13002912,Rs17488834,Rs2278699 of ZAP-70 series.Later we made x2 test on the three SNP freq.by software SPSS 13.0 （made Fisher＇s Extact Test when the freq less than 5）.The results showed that the average of P is more than 0.05.There was no statistica discrepancy.Conclusions We found none SNPs that related to asthma in the promoter and exons of LAT （linker for activation of T cell） and its upstream regulating factor.

关 键 词：哮喘 T淋巴细胞活化衔接子 调控因子 单核苷酸多态性 

分 类 号：R562.25[医药卫生—呼吸系统]