Bio 1

• Recombinant DNA Technology and The

Human Genome Project

SDJacinto
Institute of Biology
UP Diliman
 Result Standardized
Bibliographic Entry
(w/surrounding text) Result

Mitchel, Campbell Reece. Biology Concept and "At actual size, a human cell's DNA totals about 3 meters 

3.0 m
Connections. California, 1997. in length."

McGraw Hill Encyclopedia of Science and Technology.  "If stretched out, would form very thin thread, about 

2.0 m
New York: McGraw Hill, 1997. 6 feet (2 meters) long."

Matthews, Harry R. DNA Structure Prerequisite "The length is (length of 1 bp)(number of bp per cell) 

2.0 m
Information. 1997. which is (0.34 nm)(6 × 109)"

Leltninger, Albert L. Biochemistry. New York: Worth,  "Chromosome 13 contains a DNA molecule about 
1.5 m
1975. 3.2 cm long."

"Cell." The World Book Encyclopedia. Chicago: Field  "On the average, a single human chromosome consists 

2.3 m
Enterprises, 1996. of DNA molecule that is about 2 inches long."

http://hypertextbook.com/facts/1998/StevenChen.shtml
 The DNA unraveled
Nucleosome
Bases

Double helix

Chromosome
http://www.molecularlab.it/images/varie/dna_structure.jpeg
 C

www.cse.ucsc.edu/.../ biology_starter/DNA.html
http://cellbio.utmb.edu/cellbio/DNA-RNA.jpg
http://www.geneticengineering.org/chemis
http://www.bioteach.ubc.ca/MolecularBiology/AMonksFlourishingGarden/translatio
 Recombinant DNA technology

• DNA from one source is cut and combined

with DNA from another source.
• Donated DNA representing a gene is cut with
restriction endonucleases (RE)
• RE cuts at very specific sequence of bases.
• Host DNA is also cut.
• Another enzyme (ligase) glues the two cut
pieces together.
• This engineered DNA is then inserted into an cell
such as bacteria or yeast.
http://ghs.gresham.k12.or.us/science/ps/sci/ibbio/biotech/pics/recombinant.gif
 Significance
• Has applications in improvement of
livestock and agricultural produce
and therapy of certain diseases,
– Some plants made resistant to pests,
diseases and drought due to
Recombinant DNA technology
– Human insulin is now expressed from
recombinant genes expressed by
bacterial vector.
Recombinant DNA tech applied- 
examples

• Genetically modified organisms 
(GMOs)-applications of recombinant 
DNA technology
– Transgenic organisms-officially defined as 
“one whose genome has been modified by 
externally applied new DNA;  a term 
applied to metazoans”
soybeans

BT corn
http://images.google.com.ph/imgres?imgurl=http://www.scq.ubc.ca/quarterly023/GM-
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 Other interesting
transgenic organisms
– The case of Herman -the transgenic
bull containing foreign gene
lactoferrin- iron containing protein.
• Herman has sired many calves all with
lactoferrin gene
• Successful breeding of Herman and
progeny, a new source of nutritious milk
may become available; has far-reaching
effects for children in developing
nations.
http://www.ifgene.org/herman.jpg
GENETIC MODIFICATION HAS NO PLACE
IN THE WORLD OF FOOD

www.kids.organics.org/ Organic/5.htm
http://images.google.com.ph/imgres?imgurl=http://www.nextnature.net/research/wp-
content/uploads/2007/07/029_crop.jpg&imgrefurl=http://www.nextnature.net/%3Fp%3D1283&usg=__ZCgRB7c_BJax2QHCGsC6oT1QqMY=&
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http://blogs.venturacountystar.com/greenberg/archives/qqxsgGMOArk.jpg
 Recombinant DNA
technology applied

peer.tamu.edu/.../ module_4/whyitmatters.htm
 What’s it all about?
• Doctors assess DNA samples to detect
presence of heritable diseases
• With gene therapy they can replace
defective or absent genes to direct
normal function
• The case of defective p53 genes and
carcinogenesis
www.york.ac.uk/depts/ biol/units/cru/gendeliv.htm
http://labspace.open.ac.uk/file.php/2622/SK195_5_002i.jpg
http://ghr.nlm.nih.gov/handbook/illustrations/therapyvector.jpg
 The Human genome project
•  started in 1990 finished in April 2003 
• objective is to know the DNA sequence of the 
whole human genome ( the totality of DNA in any 
human cell)
•  was supported by the US Department of Energy 
and National Institutes of Health. During the early 
years of the HGP, the Wellcome Trust (U.K.) 
became a major partner; additional contributions 
came from Japan, France, Germany, China, and 
others..
• Celera-private organization based in Maryland 
also conducted similar project; in effect a 
competitor
http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml
 
 Project goals
• identify all the approximately 20,000-25,000 genes 
in human DNA, 
• determine the sequences of the 3 billion chemical 
base pairs that make up human DNA, 
• store this information in databases, 
• improve tools for data analysis, 
• transfer related technologies to the private sector, 
and 
• address the ethical, legal, and social issues (ELSI) 
that may arise from the project. 

http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml
 Basic Facts revealed from
human genome project
• The human genome contains 3.2
billion chemical nucleotide
bases (A,G,C,T)
• Average gene contains 3000
bases but varies greatly; largest
known human gene is
dystrophin with 2.4 million bases
We know what some of those
genes do!
• Tentative assignments for some of
the gene functions have been made
for half of the genes of the identified
human DNA sequence
• Functions of the other half still
unknown; the exact functions of the
“known” genes not even clear
 We have the most genes,
but…
• In functional categories, humans have
more genes than all other organisms
whose genes have been sequenced.
• Plants have more metabolic genes!
than any other animal whose genes
have been sequenced.
 Significance of Human
genome Project
• Can be of help in treatment of diseases; 
(for instance one common goal of many 
laboratories is to utilize the information 
from the human genome project to unravel 
the molecular mechanism of Down’s 
syndrome; so far no success )
www.goma.demon.co.uk/ genetics/geneprinter.html
 What’s left to be done?

• Just about everything! The sequence of 
the human genome has been made 
available for everybody’s use and 
interpretation.
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 Pharmacogenomics
• Study of how variations in the human genome 
affect the response to medications
• Environment, diet, age, lifestyle, and state of 
health all can influence a person's response to 
medicines, but understanding an individual's 
genetic makeup is thought to be the key to 
creating personalized drugs with greater efficacy 
and safety. 
• May permit drugs to be tailor-made for 
individuals and adapted to each person's own 
genetic makeup. 
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 The cases of BRCA1 and 2 and 
PTPN1
• BRCA1 and 2- tumor suppressors that if 
mutated can cause breast cancer
 Genes involved in stroke
• H63D genetic defect in the HFE gene
• one of the most common inheritable 
genetic defects, especially in Europe,
–  where it's estimated one out of four people 
carry the defective gene in northern Europe.
– In southern Europe, even more people may 
carry this genetic defect. 
– leads to iron overload in the body, eventually 
causing organ dysfunction, diabetes, and liver 
cirrhosis, and now stroke.
 Nutrigenomics
• The study of how different foods may 
interact with specific genes to increase the 
risk of common chronic diseases such as 
type 2 diabetes, obesity, heart disease, 
stroke and certain cancers. 
• The premise underlying nutrigenomics is 
that the influence of diet on health 
depends on an individual's genetic 
makeup.
www.globecartoon.com/ neweconomy/13.html
Thank you for your attention..
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