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The human genome project
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TheHuman
Genome
Project
YOSSI SEGAL 1996
THE ISRAEL ACADEMY OF SCIENCES AND HUMANITIES
, FOREWORD
The concept of deciphering the Human Genome surfaced in the United
States in the 1930s following the discoveries that color blindness and
hemophilia are linked to chromosome X.
The Human Genome Project (HGP) originated in the U.S. at the
Department of Energy (DOE) meeting in Alta, Utah in December 1984,
when the possible use of DNA analysis in detecting mutations among
atomic bomb survivors was contemplated.
Following lengthy deliberations, the U.S. government approved the
program, and in 1988 the HGP was launched under the supervision of
the National Institutes of Health (NIH) and DOE. In 1990 it was shaped
into the form of a 15-year program, designed to map and sequence the
entire Human Genome and also of several model organisms, at a yearly
budget of two hundred million dollars totaling three billion dollars, to
end in the year 2005.
Several other countries, headed by France, the UK and to a lesser
extent Japan, have joined this effort. Contiguous to this is an on going
international collaboration of many other countries, including Israel. It
also includes the contribution of several international organizations,
such as HUGO (Human Genome Organization), the European Commu-
nity (EC), and UNESCO, in the dissemination of knowledge and
information and the support of scientific and technological activities.
The present publication provides a concise description of the
evolvement of the HGP, its goals, the countries and organizations
involved, and the activities and progress thereof.
The expectations from the HGP, as held by the scientific, therapeutic
and biotechnological communities, as well as society as a whole, are
enormous, and so are the benefits (see Appendix 1).
At the same time, however, the knowledge derived from the HGP
could, and most probably would, result in the establishment of a genetic
identification for each person, harboring a great risk to the individual and
to society if not used prudently and under the strictest of regulations. (See
Appendix 2).
1
, Yossi Segal
THE HUMAN GENOME PROJECT
EVOLVEMENT
1. Beginning of Human Genome Mapping: In the 1930s, following the
discoveries that color blindness and hemophilia were linked to
chromosome X.
2. Genetic mapping accelerated in pace in the late 1970s with the
advent of RFLP (restriction fragment length polymorphism) mar
kers. But these are relatively rare and unevenly dispersed in the
Human Genome, difficult to analyze and not sufficiently informa
tive.
3. Genetic mapping was boosted with the introduction of STRP (short
tandem repeat polymorphism) markers in the late 1980s (first by Jim
Weber, Marshfield Medical Research Foundation, CA).
4. With the aid of STRPs, the entire genetic map has been saturated by
markers, so much so that the new maps incorporate over 3,600
STRPs, 400 genes, and 1,800 other markers (RFLPs and other DNA
segments). These maps describe human genetic diversity at a mean
resolution of 0.7 cM (centimorgan).
5. Genetic maps helped localize more than 40 genes, including cystic
fibrosis, fragile X syndrome, myotic dystrophy, types of colon and
breast cancer (BRCA1), ataxia telangiectasia, Alzheimer's disease,
and others. Application of gene therapy has been in progress since
1990 (see Appendix 1).
6. The short-term goal of genetic mapping has been accomplished, but
it leaves too many gaps and lacks anchor points of chromosomal
telomeres and centromere. A satisfactory genetic map is believed to
be achieved by increasing the marker density up to 1 marker per 100
bp.
7. Today (1st half of 1995), about only 2.5% of the Human Genome has
been sequenced.
, The Human Genome Project
THE PROCESS OF DECIPHERING THE HUMAN GENOME
A. EXPERIMENTAL PROCEDURES:
1. RFLPs (introduced by Solomon and Bodmer in 1979, and Botstein
and co-workers in 1980). Since DNA varies from one individual to
another with roughly 1 nucleotide per 500, when DNA is cut with
restriction enzymes a polymorphic pattern of fragments is produced
in different individuals, which can be employed in genetic mapping
by finding RFLPs with similar traits (markers).
2. Pulsed-field gel electrophoresis (PFGE) (Schwarts and Cantor, in
1984) enables separation of large DNA fragments up to 10 M bp.
3. Polymerase chain reaction (PCR) (Saiki and co-workers, in 1985, and
Mullis and coworkers, in 1986) enables a manifold amplification of a
DNA sequence, providing working means for analyzing minute
amounts of DNA.
4. Yeast artificial chromosome (YAC) (Burke and coworkers, in 1987)
enables cloning of large DNA segments up to 1 M bp.
5. Sequence-tagged site (STS) (Olson and coworkers, in 1989), the
common mapping language, is a short, 100-1000 bp DNA segment,
unique in the genome, and defined by a pair of PCR primers.
"Genomatron" is an automated system that can screen hundreds of
STSs in hours (developed by Eric Lander and co-workers, Whitehead
Institute, 1994).
6. Positional cloning: "Positional candidate" strategy is predicted to
become the major process for identifying disease genes. This
approach is based on a 3-step process that saves time and effort: a)
localizing a disease gene to a chromosomal subregion (using the
traditional linkage analysis), b) searching databases for an attractive
candidate gene within that subregion, c) testing the candidate gene
for disease-causing mutations. It is believed that by now, the first
quarter of 1995, it helped in identifying more than 50 disease genes.
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