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Lecture 5

GN 301 Lecture Notes - Lecture 5: Ammonia, Alkaptonuria, Phenylketonuria

Course Code
GN 301
Marian- Elizabeth B.Gardner

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1.5 Human Genome Project
Thursday, September 7, 2017
10:16 AM
Human Genome Project
o Goals:
i. Identify loc. of all genes (~23,000)
ii. Determine seq. of all DNA base pairs (3 billion)
iii. Make info avail. to public
iv. Addresses social and ethical issues
o Who?
Dept of Energy
Study of radiation exposure, and HGP could help, therefore their computers
and storage would help study
Did actual mapping
Provided much of the funding
Map-Based Sequencing
Divide genome into small seg., then lined up and oriented, and then map
(find location of )
Private research (ex: Celera Genomics)
Whole Genome Shotgun App.
Cut genome in small pieces, sequence each piece, find order using comp.
Highly automated
International Scientific groups (Inten. Human Genome Map. Consortium)
o Who was used?
20 males and 20 females; international
Even sequenced Boxer dog genome
o Started in 1990; Comp. in 2003
James Watson, then Francis Collins were in charge
3 billion dollars, dollar per base pair
3% set aside for ethical issues
o Considerations
Function and regulation still unknown
Could help diagnose and prevent disease
Evolutionary relationships
Genome Comp. Studies
o Study genetic relat. btw ind. and species
o We share 99.9% of these base pairs
o Orthologs: homologous sequences found in diff. Species
o Paralogs: homologous genes in same species and arrive thru gene duplication
We use chimps to study humans
Ethical Issues
o How is the info used
Could show what disease you might inherit
Insurance companies
o Privacy and confidentiality
find more resources at
find more resources at
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