生物信息扣学导论.ppt

* * Gene Databases Once a genome is assembled, targeting genic regions is desired Humans: 30,000 genes On order of 1,000’s of bases long * * Gene Databases RefSeq Set of mRNA sequences curated at NCBI Many experimentally validated Some partially validated via ESTs Some computationally predicted * * Gene Databases Give information into gene functionality Alternative splicing of genes Alternative pattern of exons included to create gene product Databases of approved gene names * * Gene Databases RefSeq: NCBI Reference Sequence Project /RefSeq/ AllGenes: GDB / GenAtlas: http://www.citi2.fr/GENATLAS/ Genew (Approved gene names): http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl ASAP: Alternatively spliced genes /ASAP * * SNP Resources Single Nucleotide Polymorphisms (SNPs) SNP: Single base difference in a single position among two different individuals of the same species Humans: occur 1/2000 bases * * SNPs Roughly 4 million in human population Play an important role in differentiation and disease Classic Example: Sickle Cell Anemia * * Sickle Cell Anemia Due to 1 swapping an A for a T, causing inserted amino acid to be valine instead of glutamine in hemoglobin * * Healthy Individual giref|NM_000518.4| Homo sapiens hemoglobin, beta (HBB), mRNA ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGA GGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC AGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATG CTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGC TCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGAT CCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCA CCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCA CTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACT GGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGC gi|4504349|ref|NP_000509.1| beta globin [Homo sapiens] MVHLTPEEKSAVT