RYAN CARLO P.

CONDE
BS-BIOLOGY III

What is the HGP?

Its a research program
in which scientists all
over the world tried to
gain an understanding of
human genes and where
they are located on the
human genome.

What is the HGP?

The Human Genome
Project (HGP) is a genetic
project designed to help
us push through the field
of genetics to more
understand the how our
bodies function
genetically

What is the HGP?

Human Genome: is the full complement of
genetic material in a human cell
It locates where the DNA base pairs are
located in your body
A person has 100,000 to 300,00 genes

How does it work?

Scientists get large
samples of human DNA
and use gene mapping
techniques to find
where on the genome
certain genes, like
those for diseases, can
most likely be found.

Gene Mapping?
Scientists isolate DNA
and examine it for a
disease or trait. Then
they determine where the
trait may be located by
using DNA markers. The
more markers, the more
likely the map is closely
linked to a diseased gene.

Linkage?
Linkage allows us to determine the regions of
chromosomes that are likely to contain a risk
gene
Linkage helps locate the distance between
disease causing genes
Risks labor intensive, requires DNA from
affected and unaffected genes

Genome that have already been sequenced

Phage X174 in 1997
Mycoplasma genitalium in
1995
Haemophilus influenza in
1995
Yeast in 1996
E. coli 1997
Drosophila 2000

Caenorhabditis elegans

1998
Arabidopsis thaliana 2001
Rice 2002
Anopheles gambiae 2002
Human genome 2003

Organism

Genome Size (Bases)

Estimated Genes

Human (Homo sapiens)

3 billion

30,000

Laboratory mouse (M. musculus)

2.6 billion

30,000

Mustard weed (A. thaliana)

100 million

25,000

Roundworm (C. elegans)

97 million

19,000

Fruit fly (D. melanogaster)

137 million

13,000

Yeast (S. cerevisiae)

12.1 million

6,000

Bacterium (E. coli)

4.6 million

3,200

Human immunodeficiency virus (HIV)

9700

History
Begun in 1990, the U.S. Human
Genome Project was a 13-year
effort coordinated by the U.S.
Department of Energy and the
National Institutes of Health.
The project originally was
planned to last 15 years, but
rapid technological advances
accelerated the completion date
to 2003

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 related
information
in
transfer
technologies
to the private
databases
sector
improve
addresstools
the ethical,
and social issues
for datalegal,
analysis

Whats the point of all

Scientists wanted to:
this?
Complete a detailed
human genetic map
Complete a physical map
Acquire the genome as
clones
Determine the complete
sequence
Find all the genes

And I care
Having a because?
better knowledge of the human
genome can:
Lead to better diagnosis of diseases and earlier
detections of predisposition to that disease
Teach us how humans evolved and continue to
evolve

An individual genes differs from the

Siblings by 1 to 2 million bases, ~99.98% identical, dna
with of:
coding regions 99.99999% identical
Unrelated humans by 6 million bases, ~99.8% identical
overall, with coding regions 99.9999% identical
Chimpanzees by about 100 million base pairs ~98% identical
Baboons by about 300 million base pairs ~92% identical
Mice by about 2.8 billion bases, but coding regions are ~90%
identical
Leaf spinach by about 2.9 billion bases, but coding regions
are ~40% identical

PROS?

Successfully identifies where the genes

of DNA are located in the body
Advances in molecular medicine
Advances in microbial genomics
Advances in agriculture and livestock
breeding

CONS?

Research costs a lot of money

People are afraid of discrimination of
genes
Process is very difficult with lots of
procedures

What
weve
learned so
far from
the human
genome
project

The human genome is nearly the

same (99.9%) in all people
Only about 2% of the human genome
contains genes, which are the
instruction for making proteins
Humans have an estimated 30,000
genes; the function of more than half
of them are unknown
Almost half of all human proteins
share similarities with other
organism, underscoring the unity to
live

How dna impacts

health differences in DNA
Identify and understand
sequence (A,T, C,G) among human populations

Discover the function of human genes by

what
all genes
do
experimentation
and by
finding genes with similar
functions in the mouse, yeast, fruit fly, and other
sequenced organisms.

bioanthropology
Understand human lineage
Explore migration pattern through time

Medicince

Develop more accurate and rapid diagnotics

Design customized treatments

Human gene maps and mapping of

human inherited diseases
The genetic maps initially involved the production of
fairly low-level resolution index, skeleton or
framework maps, which were based on polymorphic
variable number di-, tri- and tetra-nucleotide tandem
repeats spaced approximately 10cM intervals
throughout the genome. The most recent high-level
resolution maps have polymorphic markers that are,
on average, spaced at intervals of less than 1 cM.

 The mapping information from these genetic maps

has been integrated with high-resolution physical
maps.
The information for the latter maps comes from a
variety of sources using a number of different
technologies that include FISH, somatic cell and
radiation hybrids, and YAC or cosmid contigs.

 Rush to Patent Human Genes

Availabilty

the
Employers
Nationalusing
Institutes
genetic
ofinformation
Health, hasto
made all its
information
discriminatefreely
over whom
available
theyand
willintends
hire or when
to patent
nothing.
current employees will be laid off or forced into
retirementthere are several patent requests
However,
pending
80-90% Americans
on human genes
believefrom
theirthe
genetic
time before the
HGP
information
was completed.
should be private & obtained or
accessed only with their permission.

Medical
Benefits
Disease
Intervention
There
are
exploration
into the function
many benefits
of each human gene will shed light on
with the
how faulty genes play a role in disease
Human
causation. With this knowledge we can
Genome
start developing
medicines to help
prevent theProject
defect.

Diagnosing and Predicting Disease

and Disease Susceptibility
the successes of the HGP have even
enabled researchers to pinpoint errors
in genes the smallest units of heredity
that cause or contribute to disease.
The ultimate goal is to use this
information to develop new ways to
treat, cure, or even prevent the
thousands of diseases that afflict
humankind

CHANGES IN DNA
SEQUENCES = MUTATIONS

SNPs
GATTTAGATCGCGATAGAG
GATTTAGATCTCGATAGAG
^

A mutation that causes a single base

change is known as a Single Nucleotide
Polymorphism (SNP)
Other kinds of mutations include insertions
and deletions
Large breaks and rearrangement of
chromosomes also occur (translocations)

We describe a map of 1.42 million single

nucleotide polymorphisms (SNPs) distributed
throughout the human genome, providing an
average density on available sequence of one
SNP every 1.9 kilobases. These SNPs were
primarily discovered by two projects: The SNP
Consortium and the analysis of clone overlaps
by
the
International
Human
Genome
Sequencing Consortium.

The map integrates all publicly available SNPs with

described genes and other genomic features. We
estimate that 60,000 SNPs fall within exon (coding and
untranslated regions), and 85% of exons are within 5
kb of the nearest SNP. Nucleotide diversity varies
greatly across the genome, in a manner broadly
consistent with a standard population genetic model of
human history. This high-density SNP map provides a
public resource for defining haplotype variation across
the genome, and should help to identify biomedically
important genes for diagnosis and therapy.

ETHICAL & LEGAL ISSUES

There are a lot of issues that come up when
talking about the Human Genome Project and
when figuring ways how to use it.
Many people of our society are concerned
about how this will affect people around us
and if it could cause a new idea for gene
racism
Also there could be fighting over the use of a
particular part of a gene and how it can or
cannot be used.

 Who should have access to personal genetic

information, and how will it be used?
How do we prepare the public to make
informed choices?
Where is the line between medical treatment
and enhancement?
How does personal genetic information
affect
an
individual
and
society's
perceptions of that individual?

THEN
Just a half-century ago very little was
known about the genetic factors that
contribute to human disease.
The Human Genome project spurred a
revolution in biotechnology innovation
around the world and played a key role in
making the U.S. the global leader in the
new biotechnology sector.

NOW
The Human Genome Project has already
fueled
the
discovery of more than 1,800 disease
genes.
As a result of the Human Genome Project,
todays
researchers can find a gene suspected of
causing
an
inherited disease in a matter of days,

 There are now more than 1,000 genetic

tests
for
human
conditions. These tests enable patients to
learn their genetic risks for disease and
also
help
healthcare
professionals
diagnose disease.
At
least
350
biotechnology-based
products resulting from the Human
Genome Project are currently in clinical

 Having the complete sequence of the

human genome is similar to having all the
pages of a manual needed to make the
human body. The challenge now is to
determine how to read the contents of
these pages and understand how all of
these many, complex parts work together
in human health and disease.

 The increasing ability to connect DNA

variation with non-medical conditions,
such as intelligence and personality
traits, will challenge society, making the
role
of
ethical,
legal
and
social
implications research more important
than ever.