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HUMAN GENOME
1986 RENATO DULBECCO – human genome sequencing idea
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46 chromosomes
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50000-100000 genes
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3,5 billions nucleotides pairs
1989 – USA launched the project
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coordinator: HUGO (Human Genetic Organization)
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span: 15 years (1990 – 2005)
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performers: USA, France, Germany, UK, Canada, Japan,
China
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estimated price: 3.000.000.000 $
HUMAN GENOME
Project abjectives:
• To identify all genes
• To map all genes
• To sequence all 3 billions nucleotides pairs
• To create data bases
• To develop sequencing methods (more fast, more efficient)
• To develop new data analysis methods
• To identify the ethical, legal and social problems generated by the
project
HUMAN GENOME
Project goal:
• Genetics disorders diagnosis
• Genetics disorders treatment
• Genetics disorders prevention
HUMAN GENOME
Projects critiques:
• Huge price (unrelated with the priorities)
• No public debate
• Focused on the genes and ignoring the environment
Fulfill the project:
15 of February 2001, Nature, the first results published:
• 95% genes mapped (30000-40000 genes)
• 96% genome sequenced
HUMAN GENOME
First results
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Genes number : 30000-40000 (double than the fly!)
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Unequal distribution of the genes along the chromosomes
(active DNA şi junk DNA “un-useful” (cca 50%!)
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“Un-useful” DNA= vestigial DNA!
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more complex proteome than other species
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numerous common genes with bacteria, invertebrates,
vertebrates,
HUMAN GENOME
First forecast
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Each newborn will have a genetic file (DNA finger print,
genetics mutations, susceptibility genes, etc.)
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Which disorders will develop? when? how severe will be?
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Will know the sharp way from the gene to character,… from
the genes to all our big life events, … from the genes to the
death
HUMAN GENOME
First practical applications
•Genes mutations
•Susceptibility genes
•Genetic engineer drugs
•Genetic uniqueness (from fingerprint to DNA fingerprint)
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paternity
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delinquency
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rape
GENETIC TESTS
(DNA; molecular tests)
• direct analysis of the DNA molecule
• Biochemical tests (for the gene product: enzyme, protein, etc.)
• FISH test
GENETIC TESTS
INSTRUCTIONS
• Genetic diagnosis (symptomatic persons)
• Carrier test
• Prenatal diagnosis
• Neonatal screening
• Pre symptomatic tests for a genetic disorder, or
genetic predisposition, or some cancers (breast,
ovary, colon, etc.)
• Forensic genetic tests
GENETIC TESTS
(first concerns)
Human history is a history of discrimination:
racial, social, economics, religious, …
Genetics discrimination
Superior biological potential
Normal biological potential
Inferior biological potential
HUMAN GENOME
(genetics discrimination)
Social insurance discrimination
(discrimination of risk persons, of obese, of
hypertension patients, of their families, etc.)
HUMAN GENOME
(genetics discrimination)
Occupational discrimination
Some professions in which exposure at an environmental
factor is unfavorable for sensitive persons
sickle cell anemia triggered by chemicals
light skin pigmentation –high risk for skin cancer for diggers, oil industry
Occupational risk discovered by genetic tests = benefit,
ATTENTION TO ABUSE
(unemployment, firings, etc.)
HUMAN GENOME
Privat genetic life (Baudouin, 1994)
Genetic fingerprint - confidential
To tell family about a severe mutation?
Is it the right of the patient?
Is it the right of the physician?
Is it the right of the family to know about?
HUMAN GENOME
First fears
Frankenstein
Jurassic Park
Biological watch – mutations that can “change” the watch
(genetic time, species specific)
“night” workers
to short the sleep time (are we sleeping to much?!)
HUMAN GENOME
The last fear - cloning
Oxford dictionary: an animal or a human being which will
develop from one somatic cell of a parent and is
genetically identical with the donor parent.
Question without answers (yet):
• The statute of the clone: parent or twin?
• Who has the legal right towards the clone (heir or not?)
• How will react the clone without a mother and a father?
• If will be cloned persons without discernment
(murderous)?
• Who can be cloned? Based on what criteria?
CLONING
• Unlegalized in USA and Europe
• Partisans of cloning:
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Research freedom
Transgenic animal models
A death person recovery
Cell, tissues, organs transplant
Associations: pro-Nobel, pro-Elvis, pro-Isus, etc.
CLONING
PRO
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Research for humanity benefit
Transgenic animals
Understanding and prevention of
abortion
Parents with genetics disorders
will have the possibility to produce
normal clones
One pregnancy with univiteline
twins instead of two
Male sterility
Female sterility (the wife take
care of her own cloned husband)
Gay couples
Lesbian couples
Single women
Eugenics facility by cloning a
healthy parent or child
AGAINST
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Genetic mutations risk
Emotional risk: the clone can realize that the
mother is the sister and the grandmother is
the mother
Abuse risk (clone of a dictator)
To eliminate the zygotes of a certain gender
The clone have at birth the age of the donor
(low life expectancy)
The men could become useless from the
genetic point
The clone= a human being without soul?
(Catholic Curch)
Uncertain results (Dolly born after 277 tries)
Reduction of the species variability
Restriction of the free development (the
clone will grow up under the donor or an old
clone control)
A break up of a family relationships: the
parent is a twin of the own child; the sisters
and brothers are uncles and aunts too.