3例极早发炎症性肠病患儿及其父母IL-10RA基因序列分析  

Sequence analysis of IL10RA gene in 3 families of very early-onset inflammatory bowel disease

作　　者：张伯玮 李扬 任静 王鑫 ZHANG Bowei;LI Yang;REN Jing;WANG Xin(Tianjin Medical University General Hospital,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院

出　　处：《山东医药》2020年第6期31-35,共5页Shandong Medical Journal

基　　金：国家自然科学基金(81801638)

摘　　要：目的分析3例极早发炎症性肠病患儿及其父母IL-10RA基因序列,探讨早发炎症性肠病患儿家系遗传学特点。方法采用桑格尔测序方法对3例极早发炎症性肠病患儿及其父母进行IL-10RA基因序列分析,利用NCBI蛋白数据库和Bioedit软件进行人类和不同物种IL-10RA蛋白同源性比较,并运用Polyphen-2及MutaitonTaster软件进行检出突变的致病性预测。结合既往文献及本研究中的患儿基因突变位点制作我国IL-10RA基因突变谱。结果3个家庭IL-10RA基因分析发现,c.299T>G(p.V100G)、c.301C>T(p.R101W)及c.326C>A(p.S109Y)突变,患儿父母均为上述3种突变基因的携带者。IL-10RA基因突变谱显示,共有23个突变在我国患者中检出,其中,p.R101W为最热点突变(119/256等位基因),p.T179T为次热点突变(67/256等位基因);另外,p.V100G、p.R117H、p.R165X在中国人群中也较为常见(分别占16/256、11/256及11/256等位基因)。结论3例极早发炎症性肠病患儿IL-10RA基因中突变位点为p.V100G、p.R101W及p.S109Y,患儿父母均为上述突变基因携带者。p.R101W为IL-10RA基因最热点突变。Objective To analyze the clinical and genetic characteristics of three very early-onset inflammatory bowel disease(VEO-IBD)children and their patients diagnosed by IL10RA gene analysis.Methods We used the Sanger sequencing method to analyze the IL10RA gene sequence in three children with VEO-IBD and their parents.NCBI protein database and Bioedit software were used to compare the homology of IL-10RA among species.Polyphen-2 and MutaitonTaster softwares were used to predict the pathogenicity of mutations.Combined with the previous literature and the genetic mutation sites of children in this study,the IL10RA gene mutation profile in China was prepared.Results Three mutations on IL10RA gene,c.299T>G(p.V100G),c.301C>T(p.R101W),and c.326C>A(p.S109Y)were found from these three families,and their parents were mutation carriers.The IL10RA mutation profile showed a total of 23 mutations,of which p.R101W was the most common mutation(119/256 allele);p.T179T was the next hotspot(67/256 allele);p.V100G,p.R117H,and p.R165X were also quite common(16/256,11/256,and 11/256 alleles,respectively)in Chinese population.Conclusion Three mutations on IL10RA gene,p.V100G,p.R101W,and p.S109Y were found from these three families,and their parents were mutation carrier,of which,p.R101W was the most common mutation.

关 键 词：IL-10RA基因 IL-10RB基因 IL-10基因 p.V100G突变 p.R101W突变 p.S109Y突变 极早发炎症性肠病 

分 类 号：R574.1[医药卫生—消化系统]