Discovery of Novel Relationship among Single Nucleotide Polymorphisms, Exon Skipping Events, and Tumors

摘要

Expressed sequence tags (ESTs) are single-pass sequence reads from cDNA clones. ESTs usually represent genes expressed in a particular tissue. Single nucleotide polymorphism (SNP) is a very important resource for protein structure and function. It may make a contribution to understand a complex disease, such as tumor. Through analysis of large scale human ESTs, we try to find relationship among SNPs, exon skipping events, and tumors. We found 784 human SNPs are related to exon skipping (ES) events. A total of 395 tumor-specific exon skipping events were found. Our test revealed 38,776 SNPs having an association with tumor.