By Elliot Kronsberg, Danielle Grosse,Samantha Kramer, and William Luttrell
Began in 1990, completed in 2003 U.S. Department of Energy National Institutes of Health Wellcome Trust (U.K.)-became major partner Other contributions-Japan, France, Germany, China
Identify all the human DNA genes Determine sequences of chemical base pairs store this information in databases Improve tools for data analysis Transfer related technologies to private sector Address ethical, legal, and social issues
All DNA in organism – including genes Genes carry information for making proteins Proteins determine: how the organism looks how its body metabolizes food or fights infection sometimes even how it behaves
Made of Adenine, Thymine, Cytosine, and Guanine Repeated throughout genome Human genome - 3 billion base pairs Order of bases is extremely important Order dictates what organism is
Determining sequence of human genome Identifying genes that human genome contains Allowed researchers to understand human blueprint This knowledge will impact: The fields of medicine Biotechnology Life sciences
The process of determining the exact order of the 3 billion bases (adenine, guanine, cytosine, and thymine) that make up the DNA of the 24 different autosomal human chromosomes The resulting DNA sequence maps are being used by 21st Century scientists to explore human biology and other complex phenomena
Researchers collected blood (female) or sperm (male) samples from a large number of donors Sperm cells are selected for DNA preparation because there is a higher DNA to protein ratio which makes it easier to isolate the DNA Researchers also used white blood cells from female donor blood to represent women in the project
Gene tests involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for gene products and for microscopic examination of stained chromosomes. Researchers studied the genetic makeup of several nonhuman organisms, including the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse.
Previously, standard methods were based on separating DNA fragments by gel electrophoresis This was extremely labor intensive and expensive
Now, gel-based sequencers use multiple tiny tubes to run standard electrophoretic separations These separations are much faster because the tubes dissipate heat well and allow the use of much higher electric fields to complete sequencing in shorter times.
The human genome’s higher-gene-density are mostly composed of cytosine and guanine However, the lower-gene-density areas are rich in adenine and thymine The genes clump randomly along the genome There are areas of non-coding DNA in between
The total number of genes is estimated at 25,000, much lower than previous estimates of 80,000 to 140,000 The human genome sequence is almost exactly the same (99.9%) in all people. Functions are unknown for more than 50% of discovered genes.
The largest human chromosome (chromosome 1) has the most genes (3,168) and the Y chromosome has the fewest (344) The distribution of genes on the chromosomes of mammals is uneven, making their appearance look strange This contrasts with the genomes of many other organisms, such as the mustard weed, the worm, and the fly. Their genomes are more uniform, with genes relatively evenly spaced along chromosomes.
"Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal.” -Professor Allan Bradley Better diagnosis of diseases Help understand human migration and evolution Understand how humans evolved and how they are evolving today. Produce healthier/disease-free animals
Screening newborn babies for disease Alert patients of risk of disease Risk of future development of disease (such as Huntington’s) Testing for disease, like leukemia Study response to drugs Study mutations
The Human Genome project has identified the association of certain gene sequences with diseases. These include: • Breast cancer • Muscle disease • Deafness • Blindness The Human Genome project may help treat or even cure these diseases.
Study diseases found to help health Maintain better general health Better drugs and medicine Understand diseases like Alzheimers or heart disease. Understand best drugs for someone based on genetic makeup.
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