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Figures and references are from: DOE Human Genome Program and this website: http://www.ornl.gov/hgmis. ” Nothing in biology makes sense unless it is viewed in the light of evolution".
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Figures and references are from: DOE Human Genome Program and this website: http://www.ornl.gov/hgmis. The Human Genome Project
”Nothing in biology makes sense unless it is viewed in the light of evolution". The Human Genome Project
Begun in 1990, the US portion of the Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances have accelerated the completion date. It is now finished 4 years early. http://www.ornl.gov/TechResources/Human_Genome/home.html The Human Genome Project
Project goals are to • identify all the more than 100,000 genes in human DNA, (That is what they thought at the time.) • determine the sequences of the 3 billion chemical base pairs that make up human DNA, • store this information in databases, • develop tools for data analysis, and • address the ethical, legal, and social issues (ELSI) that may arise from the project. The Human Genome Project
Where are we now? The amount of genetic information doubles each year. The Human Genome Project
First Human Chromosome Completely Sequenced! On December 1, 1999, researchers in the Human Genome Project announced the complete sequencing of the DNA making up human chromosome 22. The Human Genome Project
………….researchers at the Department of Energy's Joint Genome Institute in Walnut Creek, California, have decoded in draft form the genetic information on human chromosomes 5, 16 and 19. The chromosomes contain an estimated 10-15,000 genes, including those whose defects may lead to genetically linked diseases such as certain forms of kidney disease, prostate and colorectal cancer, leukemia, hypertension, diabetes and atherosclerosis. The Human Genome Project
Progress Toward HGP Sequencing Goals: 97.7% of 3 billion DNA base pairs Working draft sequence Goal: 90% by summer 2000 79.1% (2,540,358,000 bases) (01/May/00) Finished, high quality sequence: Goal: 100% by 2003 18.6% (598,586,000 bases) (01/May/00) The Human Genome Project
What is meant by Gene Mapping? The Human Genome Project
Genomic geography. The human genome can be mapped in a number of ways. physical maps genetic linkage maps The Human Genome Project
A Hierarchy of Gene Maps: Whole chromosome—100 million base pairs Which chromosome? mouse-human cell fusion techniques The Human Genome Project
Fragment the chromosome into 100-200 pieces. Each piece is about 100-200 kilo base pairs Separate the fragments and insert them into large cloning vectors (for ex: a YAC.) The Human Genome Project
A cytogenetic map is based on staining or in-situ hybridization of chromosomes. Resolution = 3-4 M bases The Human Genome Project
A linkage map is based on frequency of recombination between traits. The first linkage maps were done on the X chromosome. The Human Genome Project
Physical maps are based on restriction mapping of marker locations on fragments. Sets of YAC clones (100-1000 kilobases) Cosmid clones (40 kilobases) Plasmid clones (17 kilobases) The Human Genome Project
A “contig” is a set of overlapping clones. The Human Genome Project
YAC = yeast artificial chromosome ARS Centromere Telomeres ARS (autonomously replicating sequence) Some minimum amount of DNA (can accommodate several 100 Kilobases of DNA) The Human Genome Project
The DNA sequences of overlapping clones can be put together to map the sequence of genes or particular regions of chromosomes. The Human Genome Project
EST = Expressed Sequence Tags The Human Genome Project
Technology Recombinant DNA Gene Sequencing PCR Cell Fusion cDNA EST’s The Human Genome Project
Applications The Human Genome Project
Assignment 2: Annotated Bookmarks of Web Resources for Human Genetics and the Human Genome Project The Human Genome Project Gene Data Bases Resources on Inherited Diseases Genetic Counseling Educational Resources The Human Genome Project
Organization Science Technology Applications Social and Ethical Issues The Human Genome Project
deCODE´s research on the origin of Icelanders The Human Genome Project
Iceland: A genetically homogeneous population with detailed medical records going back more than 60 years. The Human Genome Project
“I find it disgusting that people can make such huge amounts of money by breaking ethical rules.” says psychiatrist Peter Hauksson, who is among the 25 percent of Icelanders who object to Stefansson’s plan. The Human Genome Project