一个肌萎缩侧索硬化症家系突变的SOD1基因的生物信息学研究  

A study on the mutation of SOD1 gene in FALS with bioinformatics

作　　者：陈桂生[1] 李露斯[1] 史树贵[1] 陈康宁[1] 胡俊[1] 周振华[1] 

机构地区：[1]第三军医大学西南医院神经内科,重庆400038

出　　处：《疑难病杂志》2008年第2期67-70,F0003,共5页Chinese Journal of Difficult and Complicated Cases

基　　金：国家自然科学基金资助项目(No.30300116)

摘　　要：目的利用生物信息学理论和方法对新突变基因Cu/Zn超氧化物歧化酶(SOD1)的基因序列和蛋白序列进行分析,预测和分析突变SOD1功能以及探讨生物信息学在新突变基因研究中的作用。方法以人类基因组数据库为基础,利用BLAST程序对SOD1的基因结构进行分析和序列相似性搜索;进行基因的染色体定位和基因组织结构分析;DNAstar软件进行ORFfinder和编码蛋白进行序列预测和功能分析。结果通过分析得出,突变SOD1定位于染色体21q,其开放阅读框为108bp,编码36个氨基酸,编码氨基酸具有保守性,与人的SOD1具有很高的同源性,为一胞内蛋白,突变后蛋白质的二级结构发生改变。结论突变SOD1可能是新的SOD1成员,可能突变的SOD1酶的活性以及信号通路发生改变从而影响神经细胞的生物功能,生物信息学为新基因的功能研究提供了很好的方法。Objective To analyze the gene and protein sequence of a mutation gene-Cu/Zn superoxide dismutase 1 （SOD1） by bioinformatics and to investigate the effect of bioinformatics in predicting and analyzing the function of mutation SOD1 and studying the novel mutation genes. Methods Based on the human genome database, BLASY procedure was used to analyze the gene sequence and sequence similarity of SOD1 ,and to analyze the chromosome location and gene tissue composition, using DNAstar software to predict the sequence and function of ORF finder and ceded protein. Results The analysis results showed that mutation SOD1 was located in chromosome 21q, its open reading frame was 108 bp that coded 36 amino acids, and the ceded amino acids were conservative, which had close homology, in fact, which was a intracelhdar protein its grade 2 structure had changed after mutation. Conclusion The mutation SOD1 may be a new member of SOD1 ,which may effect the biological function of neurons by changing the activity of mutation SOD1 enzyme and signal tract. The bioinformatics is an effective method for the study to the function of new genes.

关 键 词：肌萎缩侧索硬化症 生物信息学 突变SOD1 

分 类 号：R744[医药卫生—神经病学与精神病学]