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HUMAN
GENOME
PROJECT
 HUMAN
GENOME
PROJECT INTRODUCTION
since the beginning of time, people have yearned to explore the unknown,
chart where they have been, and contemplate what they have found

on a new quest to chart the innermost reaches of the human cell,

scientists have now set out on biology's most important mapping expedition:
the Human Genome Project

its mission is to identify the full set of genetic instructions

contained inside our cells and to read the
complete text written in the language of the hereditary
chemical DNA (deoxyribonucleic acid)
 HUMAN
GENOME
PROJECT INTRODUCTION
Why do The Human Genome Project?

provide scientists with powerful new tools to help them understand

the molecular essence of other tragic and devastating illnesses,
such as schizophrenia, alcoholism, Alzheimer's disease, and manic depression.

scientists can study how specific environmental factors,

such as food, drugs, or pollutants interact with mutated genes

Human Genome Project research will help solve greatest mysteries of life:
How does one fertilized egg "know" to give rise to so many different
specialized cells, such as those making up muscles,
brain, heart, eyes, skin, blood, and so on?
 HUMAN
GENOME
PROJECT INTRODUCTION
begun formally in 1990, the Human Genome Project
originally was planned to last 15 years,
but rapid technological advances accelerated the completion date to 2003

Timeline

1991
Human chromosome mapping data repository, GDB, established.
 HUMAN
GENOME
PROJECT INTRODUCTION
begun formally in 1990, the Human Genome Project
originally was planned to last 15 years,
but rapid technological advances accelerated the completion date to 2003

Timeline

1997
Escherichia coli genome sequence completed.
 HUMAN
GENOME
PROJECT INTRODUCTION
begun formally in 1990, the Human Genome Project
originally was planned to last 15 years,
but rapid technological advances accelerated the completion date to 2003

Timeline

2004
Human chromosome 16 and 19 completed
 HUMAN
GENOME
PROJECT INTRODUCTION
begun formally in 1990, the Human Genome Project
originally was planned to last 15 years,
but rapid technological advances accelerated the completion date to 2003

Timeline

2008
Genetic Information Non-discrimination Act (GINA) becomes law
 HUMAN
GENOME
PROJECT METHODOLOGY
the DNA analyzed in the Human Genome Project came from small samples of blood
or tissue obtained from many different people. Although the genes in each person’s
genome are made up of unique DNA sequences, the average variation in the genomes

0.05-0.1%
of two different people is estimated to be
That is, approximately
.

1 in 1000-1 in 2000
nucleotides will be different from one individual to another.
Thus the differences between human DNA samples from various sources are small
in comparison to their similarities
 HUMAN
GENOME
PROJECT METHODOLOGY
1st method: Genetic Mapping

identifies only the relative order of genes along a chromosome

linkage mapping was developed in the early 1900s by

American geneticist Thomas Hunt Morgan

human linkage maps are created mainly by following inheritance

patterns in large families over many generations

today, however, sophisticated laboratory techniques allow researchers to

create more detailed linkage maps
by comparing the position of the target gene relative to the order of
genetic markers, or specific known segments of DNA
 HUMAN
GENOME
PROJECT METHODOLOGY
 HUMAN
GENOME
PROJECT METHODOLOGY
2nd method: Physical Mapping

physical mapping determines the physical distance between landmarks

on the chromosomes. The most precise physical mapping
techniques combine robotics, lasers,
and computers to measure the distance between genetic markers

for these maps, DNA is broken into many pieces.

DNA fragments are then duplicated numerous times in the laboratory so
that the resulting identical copies, called clones, can be tested
individually for the presence or absence of specific genetic landmarks
 HUMAN
GENOME
PROJECT METHODOLOGY
2nd method: Physical Mapping

those clones that share several landmarks are likely to come from overlapping
segments of the chromosome. The overlapping regions
of the clones can then be compared to determine the overall
order of the landmarks along the chromosome and the exact sequence in
which the cloned pieces of DNA originally existed in the chromosome.

the Human Genome Project most commonly used the DNA sequencing
method developed by British biochemist and two-time
Nobel laureate Frederick Sanger
 HUMAN
GENOME
PROJECT METHODOLOGY

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 HUMAN
GENOME
PROJECT METHODOLOGY
Bioinformatics

a new field of research, bioinformatics, has developed in part to address the computing
challenges raised by the project. Researchers in bioinformatics have developed public
databases connected to the Internet to make genome data available to scientists worldwide,
along with analytical software for making sense of this flood of biological information.
For example, DNA-sequence information is stored in several databases, including the
Genebank, the European Molecular Biology Laboratory’s Nucleotide Sequence Database, and
the DNA Databank of Japan.
 HUMAN
GENOME
PROJECT RESULTS
scientists were surprised to learn that the actual number of human genes
is far lower than expected:

only about 20 500 genes compared to

predictions that ranged from 50 000 – 140 000 genes

with the human genome sequence completed, scientists are now focusing their
attention on the proteins encoded by human genes.
 HUMAN
GENOME
PROJECT
ISSUES
&CONTROVERSIES

increased knowledge of the human genome also has many controversial ethical, legal, and
social implications. The project’s findings have sparked worldwide debate on the ethics and
legality of patenting human gene sequences for commercial use, the possibility that private
genetic information will become available to insurance companies and employers, and the
potential danger of correcting genetic defects in ways that would be passed from one
generation to the next.
 HUMAN
GENOME
PROJECT
ISSUES
&CONTROVERSIES
the high cost is not justified

ability to diagnose a genetic disorder before any treatment is available does

more harm than good because it creates anxiety and frustration

insurance companies

employment

moral/religious issues