人EIF2B4基因一个新的可变剪接产物及其鉴定  

A Novel Alternatively Spliced Product from EIF2B4 Gene and its Characterization

作　　者：周春燕[1] 富显果[1] 廖娟[1] 张晓[1] 张朵[1] 兰风华[1] 

机构地区：[1]福建医科大学福总临床医学院临床遗传与实验医学科,福州350025

出　　处：《福建医科大学学报》2012年第1期36-38,共3页Journal of Fujian Medical University

基　　金：福建省重点科技项目(2010Y0045)

摘　　要：目的对人EIF2B4基因新的可变剪接产物进行鉴定。方法应用长链RT-PCR技术扩增人外周血EIF2B4基因编码区全长序列并进行T克隆及序列测定,用常规RT-PCR对新型可变剪接产物进行验证。结果在EIF2B4基因转录产物中检测出正常变异体2和3(两者只相差3个碱基),同时发现一个外显子7缺失26bp的转录产物。结论利用长链RT-PCR结合T克隆-测序的方法,发现人EIF2B4基因的一个新型可变剪接产物。Objective To characterize a alternatively spliced product from human EIF2B4 gene.Methods The entire coding sequence of EIF2B4 gene was amplified from total RNA of peripheral blood cells by long distance RT-PCR,products of which were inserted into pGEM-T cloning vector,and multiple alternatively spliced products of the gene were analyzed by sequencing.Results In EIF2B4 gene,both transcript variant 2 and 3 were detected,which were different by 3 base pairs.A novel spliced product with a deletion of 26 bp in exon 7 was also found.This product was further confirmed by conventional RT-PCR.Conclusion A novel spliced product from human EIF2B4 gene was found using long distance RT-PCR,T cloning and sequencing.

关 键 词：剪接体 内含子 真核细胞起始因子2B 基因 逆转录聚合酶链反应 分子 克隆 序列分析 

分 类 号：R440[医药卫生—诊断学]