Standard 4.4.6

Outcomes of Sequencing of the Complete Human Genome

By: Jimin Choi and Cathy Liu

Standard 4.4.6

Standard 4.4.6 states: Outline three outcomes of the sequencing of

the complete human genome.

Human genome project• The Human Genome Project

started in 1990 and ended in 2003.

• It was coordinated by the U.S. Department of Energy and the National Institutes of Health.

• The HGP aims to: identify all 20,000 to 25,000 genes in human DNA, determine sequence of 3 billion chemical base pairs of DNA, store information in databases, address the ELSI (ethical, legal, and social implications).

Achievements• The sequencing of the human DNA sequence was completed in

the spring of 2003.• 99% of the gene-containing section of the human genome

sequence was completed, to accuracy of 99.99%, in April of 2003.• 3.7 million human SNP (single-nucleotide polymorphism – DNA

sequence variation in a single nucleotide) was mapped in February of 2003.

• The genome sequences of E. coli, S. cerevisiae, D. melanogaster, and C. elegans were finished in April of 2003.

• The whole-genome drafts of the mouse and the rat was finished in April of 2003.

Forensics

forensics • Identify potential suspects through DNA evidence

• Exonerate those wrongly convicted by providing DNA evidence

• Settle questions of paternity and other family relationships

• Identify endangered and protected species

• Detect pollutants in water, soil, air, and food

• Match organ donors with recipients• Authenticate consumables, like

caviar and wine

Forensics

In May 2010, James Bain, who was wrongly accused of the rape of a 9-year old boy in 1974, was released after 35 years in prison. The Innocence project helped to exonerate him, using DNA evidence.

Molecular Medicine

Molecular medicine• Improve upon gene therapy

(insertion or alteration of genes to treat disease)

• Develop methods of earlier detection of genetic mutation and susceptibility to diseases

• Design drugs to act as activators or inhibitors of functions of different proteins to prevent diseases (rational drug design)

• Improve diagnosis of different diseases, like diabetes, heart disease, schizophrenia, and cancer

• Reduce and treat genetic diseases, like hemochromatosis, phenlyketonuria, and hypercholesterolemia

Phenylketonuria is an inherited metabolic disease in which amino acid phenylalanine accumulates in bloodstream, resulting in brain damage. PKU is a single gene and autosomal recessive disorder. Early diagnosis is key in treating PKU, and doctors are now resorting to genotype determination and mutation analysis to better customize treatment. Before, doctors would take a blood sample from the heel of a newborn 24 hours after birth.

Risk Assessment

Risk Assessment• Assess health risks caused by exposure to

radiation• Mitigate probability of heritable mutations• Evaluate health risks caused by subjection

to carcinogenic poisons and toxins and mutagenic chemicals

• Determine genetic differences which vary individuals’ ability to resist external agents

• Discern external factors which may result in cancer

Below is a victim of the Chernobyl disaster, which occurred on April 26, 1986, in which an explosion and fire at the Chernobyl Nuclear Power Plant in Ukraine emitted radioactive contamination over USSR and Europe. The death toll varies from 4,000 to 1 million people – depending on the source.

Other Outcomes

Other Outcomes• Improve in assessment of health damage by

radiation exposure• Improve in assessment of damage caused by

exposure to mutagenic chemicals and carcinogenic toxins

• Study evolution through germline mutations• Study migration of specific groups based on

female genetic inheritance• Study Y chromosome and mutations

Works Cited"Benefits of the Human Genome Project." Human Genome Project Information. Oak Ridge National Laboratory. Web. <http://www.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml>.

"Chernobyl Accident 1986." World Nuclear Association. World Nuclear Association. Web. <http://www.world-nuclear.org/info/chernobyl/inf07.html>. Goetzman, Keith. "Chernobyl Death Toll: 4,000 or 1 Million?" Utne Reader. 4 May 2010. Web.

"Human Genome Project Goals." Human Genome Project Information. Oak Ridge National Laboratory. Web. <http://www.ornl.gov/sci/techresources/Human_Genome/hg5yp/index.shtml>.

"Phenylketonuria." Genetics Home Reference. U.S. National Library of Medicine. Web. <http://ghr.nlm.nih.gov/condition/phenylketonuria>.

Phillips, Rich. "Man Wrongly Imprisoned for Decades Happy to Start Relearning Life." CNN. 24 May 2010. Web.