Denson Jackie, Xi Zongying, Wu Yongchun, Yang Wenjian, Neale Geoffrey, Zhang Jiong
Hartwell Center for Bioinformatics and Biotechnology, St Jude Children's Research Hospital, Memphis, TN 38103, USA.
Gene. 2006 Sep 1;379:148-55. doi: 10.1016/j.gene.2006.05.012. Epub 2006 May 25.
The glutathione S-transferase Mu class (GSTM) genes encode phase II metabolism enzymes that are involved in the detoxification of various carcinogens and drugs. Some genetic polymorphisms in GSTM genes are related to disease phenotypes and drug-metabolism differences in the population. Polymorphisms that alter gene-splicing patterns are functionally very important because they often lead to the insertion or deletion of many amino acids. To identify inter-individual differences in the splicing pattern of the GSTM4 gene, we used reverse transcriptase polymerase chain reaction (RT-PCR) to screen cDNA from 96 human liver samples. We discovered a novel splice variant of GSTM4 that resulted from tandem skipping of exons 4 and 5. This exon-skipping event is associated with a mutation at the splice acceptor site in intron 4.
谷胱甘肽S-转移酶Mu类（GSTM）基因编码参与多种致癌物和药物解毒的II期代谢酶。GSTM基因中的一些基因多态性与人群中的疾病表型和药物代谢差异有关。改变基因剪接模式的多态性在功能上非常重要，因为它们常常导致许多氨基酸的插入或缺失。为了鉴定GSTM4基因剪接模式的个体间差异，我们使用逆转录聚合酶链反应（RT-PCR）从96个人类肝脏样本中筛选cDNA。我们发现了一种新的GSTM4剪接变体，它是由外显子4和5的串联跳跃导致的。这种外显子跳跃事件与内含子4剪接受体位点的突变有关。
