Research On Analysis Of SNV-mpdulated Alternative Splicing And Disease

Single nucleotide variants(SNV) is a single position of variation of nucleotide on DNA, single nucleotide variants are found widely exist in human genome, they play a regulation role in RNA transcription, protein expression and other biological processes. Till now, methods for analyzing the relationship of single nucleotide variants and alternative splicing have either high time complexity with traversing the BAM file for many times or cannot recognize various alternative splicing patterns. Otherwise, recent studies still cannot clear weather rs3851179 contributes to Alzheimer’s disease(AD) sensitive in Chinese population. For mending the old methods and deal with problems about single nucleotide variants with alternative splicing and disease, thorough research and discussion are made in this essay. The major research work and innovations are as follows:(1)Proposed a novel method for searching SNV regulated alternative splicing patterns including intron retention, alternative 3’ end and alternative 5’ end.The innovation of this method includes: Traversing the BAM file for one time and finding out three kind of alternative splicing patterns including intron retention, alternative 3’ end and alternative 5’ end, using Fisher exact test verifying the relationship between SNV and alternative splicing patterns. While verifying the function of the method with prostatic tumor data, a pile of illustrations of SNV regulated alternative splicing patterns are found.(2)Verified the countribution of rs3851179 to AD in Chinese population.The innovation of this method includes: Collecting data from available experimental data which come out various conclusions. Using Meta Analysis within the data and draw a conclusion that rs3851179 contributes to AD sensitive in Chinese population.