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kitl非编码区突变导致RNA剪切异常的小鼠
引用本文:薛整风,陈兵,茅慧华,吴宝金,李厚达.kitl非编码区突变导致RNA剪切异常的小鼠[J].动物学报,2007,53(2):332-338.
作者姓名:薛整风  陈兵  茅慧华  吴宝金  李厚达
作者单位:1. 扬州大学比较医学中心,江苏,扬州,225009
2. 扬州大学医学院,江苏,扬州,225001
基金项目:国家自然科学基金资助项目(No.30400266、30670299)~~
摘    要:本文主要采用RT-RCR技术从kitl1-bao纯合子和正常C57BL/6(B6)小鼠总RNA中扩增出kitl基因片段,测序后与GenBank(登录号:NM.013598)序列比对,找到mRNA上突变部位。PCR扩增kitl基因组DNA上对应部位进一步测序验证。结果发现kitl1-bao突变纯合子kitl基因mRNA缺少第8号外显子。在基因组DNA上kitl基因第8号内含子第2个碱基由T转换为C,是引起mRNA剪接错误的原因

关 键 词:乙烷基亚硝基脲  kitl基因  白斑  小鼠
修稿时间:2006-10-092006-11-07

A mutation in the eighth intron of the kitl gene leads to abnormal mRNA splicing in mice
XUE Zheng-Feng,CHEN Bing,MAO Hui-Hua,WU Bao-Jin,LI Hou-Da.A mutation in the eighth intron of the kitl gene leads to abnormal mRNA splicing in mice[J].Acta Zoologica Sinica,2007,53(2):332-338.
Authors:XUE Zheng-Feng  CHEN Bing  MAO Hui-Hua  WU Bao-Jin  LI Hou-Da
Institution:1. Comparative Medicine Center of Yangzhou University, Yangzhou 225009, Jiangsu, China; 2. School of Medicine, Yangzhou University, Yangzhou 225001 Jiangsu, China
Abstract:In this paper RT-PCR was used to amplify kitl gene from the total RNA of kitl~ 1-bao homozygote and normal C57BL/6 mice. Automated sequencing revealed that the exon 8 of kitl gene was deleted in homozygous mice and the deletion also caused a frameshift. Direct sequencing of the kitl genomic DNA in the homozygous mutants showed a GT to GC change at the splicing donor site of the intron 8. This mutation interfered with normal splicing and caused the skipping of exon 8 in mutant mice.
Keywords:ENU  kitl gene  White spot  Mouse
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