生物信息学讲课四-20021009.pptVIP

前言：2000年基因组研究的三个突出方面 1. 干细胞作为基因组研究的重要选材 Celera Genomics And Geron Corporation Announce Collaboration For Human Pluripotent Stem Cell Genomics June 12, 2000 The objective of the collaboration is to identify and assign function to genes important in early human development, and to utilize the information to develop small molecule pharmaceuticals, protein therapeutics, cell and gene therapies, diagnostics, and tools for use in drug discovery and testing. 2. SNP研究的国际大协作 The SNP Consortium Ltd. is a non-profit foundation organized for the purpose of providing public genomic data. Its mission is to develop up to 300,000 SNPs distributed evenly throughout the human genome and to make the information related to these SNPs available to the public without intellectual property restrictions. 856,666 mapped SNPs, is now available. July 11, 2000 Human Genome Project and SNP Consortium Announce Collaboration 3. DNA芯片的广泛使用 第一部分：SNP研究 DOE在一篇介绍SNP文章中写到： Why does one man live to celebrate his hundredth birthday with a glass of wine in one hand and a cigar in the other while another succumbs in midlife to cancer or heart disease? And why may one womans breast cancer be effectively eradicated while anothers shows no significant response to the same treatment? The explanations may reside in the cumulative effect of a small number of differences in DNA base sequence called single-nucleotide polymorphisms (SNPs), which underlie individual responses to environment, disease, and medical treatments. SNPs are the most common type of sequence variation. SNP研究是基因组领域理论成果走向应用的关键步骤。是联系基因型和表现型之间关系的桥梁。 SNP: Single Nucleotide Polymorphisms HUMAN GENETIC DIVERSITY:The Ultimate Human Genetic Database Any two individuals differ in about 3 x 106 bases (0.1%). The population is now about 6 x 109. A catalog of all sequence differences would require 18 x 1015 entries. This catalog may be needed to find the rarest or