In the year
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1953
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J.D. Watson and F.H.C. Crick proposed their DNA
molecule model
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1985
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the Polymerase Chain Reaction (PCR), an
essential technique for genome studies was first
described and the Human Genome Project emerged
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1987
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first human genetic linkage map was published
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1990
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the first gene therapy trial was launched
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2000
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everybody will know his genetic profile based on
20 to 50 genes, the rich will become healthier and
the poor sicker
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2010
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individual genetic profiles will be extended to
5,000 genes
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2030
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everybody can get his genome sequenced at the
pharmacy and take a CD-ROM home to study his
complete gene profile (50,000-150,000 genes) on a
home computer
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(Fowler 1995, Goodfellow 1995)
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The Human Genome Project
First initiatives to sequence the human genome started in
1984, the official beginning of the Human Genome Project
(HGP) was in October 1990. Originally launched in the United
States, the project is international in structure.
Coordinating efforts in European countries particularly
include the United Kingdom, France and Italy. The project,
originally targeted at sequencing the whole genome, has
slowly shifted to providing a complete structural catalogue
of human genes and has increasingly considered related
subjects like training, ethics etc. Ethical discourse is not
a point of blockage in regard to machinic development.
Without question, it is in the interest of pancapitalism to
rationalize the flesh, and consequently it is in the
financial interest of big science to see that this desire
manifests itself in the world.
Perhaps the greatest impact of the Human Genome Project
will be the ability to characterise the genetic bases for
multifactorial diseases like cancer. The initial 5-year
goals of the U.S. Human Genome Project are listed in the
annex.
Basic Principles of Human Genetics
- The human genome consists of roughly 3 billion base
pairs, distributed among 24 distinct chromosomes. The
genome is the entirety of all genetic information of an
organism. Genetic information is encoded as a sequence of
different base pairs in DNA strands.
- Genes make up only 3% to 10% of the human genome
(Green et al. 1995); the rest keeps them in order,
controls their expression and so on. Genes are the basic
hereditary traits, the 'transcription units' separately
read by the organism.
- Current estimates range between 50,000 and 150,000
human genes (Green et al. 1995, OTA 1993).
- Genetic variation, including mutations causing
disease, appears in 1% of all genes. In respect to the
remaining 99% humans are genetically identical (Green et
al. 1995).
- Despite this conservative character of genes
individuals differ from each other in respect to an
average of over one million nucleotides, making everyone
except identical twins genetically unique (OTA 1993)
The State of the Art in Human Genome Analysis
Only 0.1% (Green et al. 1995) to 0.2% (ESHG 1995) of the
total number of base pairs have been analysed so far (DNA
sequence map). However, data from other model organisms
(yeast, mouse) can, to a certain degree, be applied in human
genetics. Sequencing is steadily becoming faster and several
intermediate steps in the human genome analysis have already
been achieved, often more meaningful for the diagnosis of
diseases than sequence data without knowledge of their
function:
- 5300 genetic markers (specific sequences to recognise
sections of the DNA) have been developed for the human
genome by a single private company (Günüthon,
May 1995, see Nowak 1995), compared to 814 markers known
in October 1994 (ESHG 1995).
- The human genetic linkage map (indicating the degree
of linkage of genetic markers) has been completed,
providing the basic tool to find and sequence almost any
human gene.
- 50% of the physical map (indicating exact distances
between the markers) is accomplished (May 1995).
- There is information on >6300 human genes (5-10%
of the estimated total number) of which 2800 have been
assigned to individual chromosomes and ~1200 have been
obtained in cloned form (Green 1995)
- Roughly half of the ~6300 genes are known to be
involved in disease (Green 1995)
- Currently existing genetic tests have the potential
to detect genetic disorders in 42% of the human
population.
One new gene is discovered every day (Fowler 1995)
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