7/27/2019 Genome.ppt

1/11

Human Genome Project 1

Human Genome Project

Human Genome

Double-stranded DNA

Complementary nucleotide base pairing

Adenine Thymine / Cytosine Guanine

7/27/2019 Genome.ppt

2/11

Human Genome Project 2

Number of base pairs in human genome: 3 billions

Number of genes in human genome: estimated80,000-140,000

99.9% bases identical among people

0.1% / 3 millions pairs scattered inseparate regions

At least 50% known as junk DNA orminisatellites or tandem repeats, not

coding for proteins

7/27/2019 Genome.ppt

3/11

Human Genome Project 3

Launched in 1990

Worldwide project scientists from USA, Britain,

China, France, Germany and Japan Planned to last for at least 15 years with a cost of

US$ 200 million per year

The first draft of the entire human genome sequence

was announced in June 2000

99.9% of the human sequence was worked out inApril 2003

Progress of the HGP

http://www.videocast.nih.gov/PastEvents.asp?c=38http://www.videocast.nih.gov/PastEvents.asp?c=38http://www.videocast.nih.gov/PastEvents.asp?c=38http://www.videocast.nih.gov/PastEvents.asp?c=38

7/27/2019 Genome.ppt

4/11

Human Genome Project 4

Goals of the HGP

Determine the complete nucleotide sequences ofhuman genome

Identify the genes in human DNA

Store the information in databases

Improve tools for data analysis including DNAsequencing

Transfer related technologies to the private sectors

Address ethical, legal and social issues (ELSI) thatmay arise from the HGP

http://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/05b_img.htmlhttp://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/05b_img.htmlhttp://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/05b_img.htmlhttp://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/05b_img.html

7/27/2019 Genome.ppt

5/11

Human Genome Project 5

Applications of the HGP

Molecular Medicine e.g. improved diagnosis ofdisease, gene therapy

Microbial Genomicse.g. protection from biological

and chemical warfare

Risk Assessmente.g. assess health damage andrisks caused by exposure to mutagenic chemicals andcancer-causing toxins

Evolution e.g. study migration of differentpopulation groups based on female geneticinheritance

7/27/2019 Genome.ppt

6/11

Human Genome Project 6

DNA Forensics (Identification)e.g.identify potential suspectswhose DNA may

match evidence left at crime scenes, identify crimeand catastrophevictims, identify endangered

and protected species as an aid to wildlife officials(could be used for prosecuting poachers)

Agriculture, Livestock Breeding, andBioprocessinge.g. to create disease-, insect-, anddrought-resistant crops, to create healthier, moreproductive, disease-resistant farm animals, to obtainmore nutritious produce

7/27/2019 Genome.ppt

7/11

Human Genome Project 7

Ethical, Legal & Social Implications

Fairness in the use of genetic informationbyinsurers, employers, courts, schools, adoptionagencies, and the military, among others

Privacy and confidentialityof geneticinformation

Psychological impact and stigmatization due to an individual's genetic differences. Reproductive issuesincluding adequate informed

agreement for complex and potentially controversialprocedures, use of genetic information inreproductive decision making, and reproductive rights.

7/27/2019 Genome.ppt

8/11

Human Genome Project 8

Clinical issues including the education of

doctors and other health service providers, patients,and the general public in genetic capabilities,

scientific limitations, and social risks; andimplementation of standards and quality-controlmeasures in testing procedures.

Conceptual and philosophical implications

regarding human responsibility, free will vs geneticdeterminism, and concepts of health and disease.

7/27/2019 Genome.ppt

9/11

Human Genome Project 9

Health and environmental issuesconcerninggenetically modified foods (GM) and microbes.

Commercialization of productsincluding propertyrights (patents, copyrights, and trade secrets)

and accessibility of data and materials.

7/27/2019 Genome.ppt

10/11

Human Genome Project 10

Useful websites

http://www.sanger.ac.uk/HGP/

http://www.ornl.gov/sci/techresources/

Human_Genome/home.shtmlhttp://www.genome.gov/Pages/EducationKit/index.html

http://www.doegenomes.org/http://www.genome.gov/Pages/EducationKit/download.html

http://www.sanger.ac.uk/HGP/http://www.ornl.gov/sci/techresources/Human_Genome/home.shtmlhttp://www.ornl.gov/sci/techresources/Human_Genome/home.shtmlhttp://www.genome.gov/Pages/EducationKit/index.htmlhttp://www.genome.gov/Pages/EducationKit/index.htmlhttp://www.doegenomes.org/http://www.genome.gov/Pages/EducationKit/download.htmlhttp://www.genome.gov/Pages/EducationKit/download.htmlhttp://www.genome.gov/Pages/EducationKit/download.htmlhttp://www.genome.gov/Pages/EducationKit/download.htmlhttp://www.doegenomes.org/http://www.genome.gov/Pages/EducationKit/index.htmlhttp://www.genome.gov/Pages/EducationKit/index.htmlhttp://www.ornl.gov/sci/techresources/Human_Genome/home.shtmlhttp://www.ornl.gov/sci/techresources/Human_Genome/home.shtmlhttp://www.sanger.ac.uk/HGP/

7/27/2019 Genome.ppt

11/11

Human Genome Project 11

Assignment

Discuss among the members of yourgroup for the question about ELSI.Present your findings.

Finish the worksheet given.