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HUMAN GENOME 1986 RENATO DULBECCO – human genome sequencing idea • 46 chromosomes • 50000-100000 genes • 3,5 billions nucleotides pairs 1989 – USA launched the project • coordinator: HUGO (Human Genetic Organization) • span: 15 years (1990 – 2005) • performers: USA, France, Germany, UK, Canada, Japan, China • 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 • Genes number : 30000-40000 (double than the fly!) • Unequal distribution of the genes along the chromosomes (active DNA şi junk DNA “un-useful” (cca 50%!) • “Un-useful” DNA= vestigial DNA! • more complex proteome than other species • numerous common genes with bacteria, invertebrates, vertebrates, HUMAN GENOME First forecast • Each newborn will have a genetic file (DNA finger print, genetics mutations, susceptibility genes, etc.) • Which disorders will develop? when? how severe will be? • 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) • paternity • delinquency • 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: – – – – – Research freedom Transgenic animal models A death person recovery Cell, tissues, organs transplant Associations: pro-Nobel, pro-Elvis, pro-Isus, etc. CLONING PRO • • • • • • • • • • • 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 • • • • • • • • • • • 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.