2.curs structura adn
TRANSCRIPT
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EREDITATEEREDITATE --
CONSERVAREA CARACTERELOR PARENTALE
- SUB INFLUENTA FACTORILOR DE MEDIU
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SUPORTUL MOLECULAR ALSUPORTUL MOLECULAR ALEREDITATIIEREDITATII
MENDELMENDEL-- 18651865-- notiuneanotiunea dede FACTORFACTOR
EREDITAREREDITAR
GRIFFITHGRIFFITH-- 19281928
efectulefectul transformanttransformant alal capsuleicapsulei polizaharidicepolizaharidice
dede diplococusdiplococus pneumoniaepneumoniae
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AVERY, CARTY, MacLEODAVERY, CARTY, MacLEOD, 1944, 1944ADNADN FACTORTRANSFORMANTFACTORTRANSFORMANTMODELEXPERIMENTALPESOARECIINOCULATICUTULPINIDEMODELEXPERIMENTALPESOARECIINOCULATICUTULPINIDEDIPLOCOCUS PNEUMONIAE: (DIPLOCOCUS PNEUMONIAE: (VIRULENTEVIRULENTE-- S,S, NEVIRULENTENEVIRULENTE-- R)R)
11))AMESTECAMESTEC TULPINITULPINI RR CUCU PROTEINEPROTEINE DINDIN TULPINITULPINI SS22)) CULTIVAREACULTIV AREA FORMEIFORMEI RR CUCU ARNARN DINDIN TULPINITULPINI SS
33)) CULTIVAREACULTIV AREA TULPINIITULPINII RR CUCU CAPSULACAPSULA MUCOPOLIZAHARIDICAMUCOPOLIZAHARIDICA DINDINTULPINATULPINA SS
44)) CULTIVAREACULTIV AREA TULPINIITULPINII RR CUCU ADNADN EXTRASEXTRAS SISI PURIFICATPURIFICAT DINDIN FORMELEFORMELESS AU AU APARUT APARUT COLONIICOLONII VIRULENTEVIRULENTE CARECARE INJECTATEINJECTATE LALA SOARECISOARECI AUAUPROVOCATPROVOCAT MOARTEAMOARTEA ACESTORAACESTORA
55)) CULTIVAREACULTIV AREA FORMELORFORMELOR VIIVII RR CUCU ADNADN SS DISTRUSDISTRUS ININ PREALABILPREALABIL CUCUENZIMEENZIME-- DNDN--AZAAZA-- SESE OBTINOBTIN FORMEFORME RR NECAPSULATENECAPSULATE SISI NEVIRULENTENEVIRULENTE
CONCLUZIE:CONCLUZIE: ADNESTESUPORTULEREDITATIIADNESTESUPORTULEREDITATII
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CARACTERECARACTERE ADNADN -- IMPLICATIA IN EREDITATEIMPLICATIA IN EREDITATE
ARE ARE STRUCTURASTRUCTURA SPECIFICASPECIFICA SPECIFICITATESPECIFICITATE DEDE SPECIESPECIE PRINPRINORDONAREAORDONAREA BAZELORBAZELOR AZOTATEAZOTATE..
ARE ARE CAPACITATECAPACITATE DEDE SINTEZASINTEZA (( AUTOREPLICARE)AUTOREPLICARE)..
INFORMATIAINFORMATIA ADN ADN POATEPOATE FIFI DECODIFICATADECODIFICATA SISI TRANSMISATRANSMISAARNARN SINTEZASINTEZA DEDE PROTEINEPROTEINE CARACTERECARACTERE..
ESTEESTE SURSASURSA DEDE VARIABILITATEV ARIABILITATE PRINPRIN RECOMBINARERECOMBINARE SISIMUTATIEMUTATIE..
ARE ARE OO DISPUNEREDISPUNERE LINIARA,LINIARA, INFORMATIAINFORMATIA DETINUTADETINUTA FIINDFIINDACCESIBILAACCESIBILA..
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STRUCTURA ADNSTRUCTURA ADN
LOCALIZAREALOCALIZAREA CELULARA ACELULARA AADNADN ::
--NUCLEU 98%NUCLEU 98%
CITOPLASMACITOPLASMA-- MITOCONDRIEMITOCONDRIE 2%2%
STRUCTURASTRUCTURA PRIMARAPRIMARA ::MACROMOLECULACUMACROMOLECULACUGRADINALTDEPOLIMERIZARE.GRADINALTDEPOLIMERIZARE.
UNITATEASTRUCTURALA =UNITATEASTRUCTURALA = NUCLEOTIDUL ( BAZAAZOTATANUCLEOTIDUL ( BAZAAZOTATA
+ PE+ PENTOZA+NTOZA+ REST DE FOSFAT ANORGANIC)REST DE FOSFAT ANORGANIC)
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DNABuildingBlocksDNABuildingBlocks
NitrogenousBase
PentoseSugar
Triphosphate
5Phosphate
3Hydroxyl
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NitrogenousBaseStructureNitrogenousBaseStructure
PurinesPurinesDoubleRingDoubleRingBasesBases
(Aand G)(Aand G)
PyrimidinesPyrimidines
SingleRingSingleRing
BasesBases(TandC)(TandC)
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NUCLEOZIDULNUCLEOZIDUL == BAZELEAZOTATELEGATElaC1ALDEZOXIRIBOZEIBAZELEAZOTATELEGATElaC1ALDEZOXIRIBOZEI
Ex:Ex: ADENOZINA, GUANOZINA, CITIDINA, TIMIDINAADENOZINA, GUANOZINA, CITIDINA, TIMIDINA
NUCLEOZIDUL SELEAGA PRINNUCLEOZIDUL SELEAGA PRINC5C5 ALDEZOXIRIBOZEIDEALDEZOXIRIBOZEIDEACIDUL FOSFORICACIDUL FOSFORIC
POLIMERIZAREA SE FACE PRIN LEGATURI
3- 5 FOSFODIESTERICE INTRE C3 AL
DEZOXIRIBOZEI SI POZITIA C5 A
NUCLEOTIDULUI URMATOR-
SE REALIZEAZA O CATENA GLUCIDO
FOSFORICA IN CARE DEZOXIRIBO-
NUCLEOTIDELE ALTERNEAZA CU
GRUPAREA FOSFAT
- PE ACEST SCHELET SE ASEAZA BAZELE
AZOTATE.
FIECARE LANT POLINUCLEOTIDIC SE
TERMINA CU O GRUPARE 5 FOSFAT
RESPECTIV 3OH
POLARITATE MOLECULEI ADN 35.
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DNADNA
SugarSugar--phosphatephosphatebackboneservesasbackboneservesasa backbone.a backbone.
The backbonehasThe backbonehasdirectionality(POdirectionality(PO44 //OH).OH).
BasesencodetheBasesencodethegeneticinformation.geneticinformation.
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STRUCTURA SECUNDARA A ADNSTRUCTURA SECUNDARA A ADN
- 2 CATENE POLINUCLEOTIDICE LEGATE
PRIN BAZELE AZOTATE COMPLEMENTARE:A-T si G-C.
-LEGATURI PRIN PUNTI DE HIDROGEN
DUBLE SAU TRIPLE.
- CATENELE SUNT COMPLEMENTARE SI
CODETERMINANTE.
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Anti-parallel
Bonding
5 PO4
PO4 5
3 OH
3 OH
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DOVEZI EXPERIMENTALE ALEDOVEZI EXPERIMENTALE ALE
STRUCTURII SECUNDARE ASTRUCTURII SECUNDARE A
ADNADN
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REGULA LUI CHARGAFF-
BAZA RATIO A+T/G+C 1
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TheFirstCluestoDNAStructureTheFirstCluestoDNAStructureTheFirstCluestoDNAStructureTheFirstCluestoDNAStructure
G A T C
22.1% 28.1% 30.1% 19.7%
15.4% 33.6% 37.1% 13.9
40.4% 9.0% 11.7% 38.9%
8.9% 42.6% 39.9% 8.6%
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PRINCIPIULPRINCIPIULDENATURARIIDENATURARII
SI RENATURARII ADNSI RENATURARII ADN
(PRIN(PRIN TEMPERATURITEMPERATURI MARI(MARI(9595 GRADEGRADE CELSIUS)/CELSIUS)/ MEDIUMEDIU ALCALINALCALIN))..
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Denaturation/RenaturationDenaturation/Renaturation
ThebondsThebondsthatholdthathold
DNADNAstrandsstrandstogethertogether
areeasilyareeasilybrokenandbrokenandreformed.reformed.
P
OH
5'
3'
T
A
C
G
C
C
T
G
T
T
T
C
T
A
A
A
P
OH
5'
3'
A
T
G
C
G
G
A
C
A
A
A
G
A
T
T
T
......
......
......
......
......
......
......
......
......
......
...
......
.........
.........
...
......
.........
.........
P
OH
5'
3'
T
A
C
G
C
C
T
G
T
T
T
C
T
A
A
A
P
OH
5'
3'
A
T
G
C
G
G
A
C
A
A
A
G
A
T
T
T
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DOVEZI EXPERIMENTALE ALEDOVEZI EXPERIMENTALE ALE
STRUCTURII SECUNDARE A ADNSTRUCTURII SECUNDARE A ADN
IMPORTANTAIMPORTANTA::
--CAPACITATECAPACITATE DEDE AUTOREPLICAREAUTOREPLICARE;;
--CONSERVAREACONSERVAREA INFORMATIEIINFORMATIEI GENETICEGENETICE;;
--TRANSCRIPTIETRANSCRIPTIE..
-- APLICATIIAPLICATII-- BIOLOGIABIOLOGIA MOLECULARAMOLECULARA..
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Polymerasechainreaction(PCR)Polymerasechainreaction(PCR)
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AlfredHersheyandMarthaChase(1952)DNAAlfredHersheyandMarthaChase(1952)DNA
isgeneticmaterial.isgeneticmaterial.
WatsonandCrick(1953)DNAisadoubleWatsonandCrick(1953)DNAisadouble
helix.helix.
The Big Bang
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STRUCTURA TERTIARA A ADNSTRUCTURA TERTIARA A ADN
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FORME FIZICE ALE ADNFORME FIZICE ALE ADN
ADN TIP AADN TIP A -- DEXTROGIR, SPIRE MAI APROPIATE, DEPRESIUNILEDEXTROGIR, SPIRE MAI APROPIATE, DEPRESIUNILESUNT DISPUSE OBLICSUNT DISPUSE OBLIC
REVERSIBIL CU FORMA BREVERSIBIL CU FORMA B
ADN TIP BADN TIP B-- APARE IN INTERFAZAAPARE IN INTERFAZA-- G1+SG1+S
ADN TIP ZADN TIP Z-- LEVOGIR, SCHELETUL GLUCIDO FOSFORIC ESTELEVOGIR, SCHELETUL GLUCIDO FOSFORIC ESTE
NEREGULAT(ZIGNEREGULAT(ZIG-- ZAG ), GUANINA ESTE LA EXTERIORZAG ), GUANINA ESTE LA EXTERIOR
FIXEAZA RAPID SI STABIL SUBSTANTA CHIMICE CANCERIGENEFIXEAZA RAPID SI STABIL SUBSTANTA CHIMICE CANCERIGENE
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FromAtoZDNAFromAtoZDNARight Handed10.7-11 bp/turn23ADiameterdsRNAand
RNA-DNA Hybrids
Right Handed
10-10.6 bp/turn
19ADiameterNormalDNA
Left Handed
12 bp/turn
18ADiameterdinucleotide repeats
Pu-Py (GCGCGCGC)
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CLASIFICAREA ADNCLASIFICAREA ADN
IN RAPORT CU STRUCTURA PRIMARAIN RAPORT CU STRUCTURA PRIMARA -- REPETITIVREPETITIV
-- NEREPETITIVNEREPETITIV
DUPA STRUCTURA TERTIARADUPA STRUCTURA TERTIARA
DUPA TOPOGRAFIA INTRACELULARADUPA TOPOGRAFIA INTRACELULARA NUCLEARNUCLEAR
-- MITOCONDRIALMITOCONDRIAL
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ADN NUCLEARADN NUCLEAR
CANTITATEACANTITATEA DEDE ADNADN NUCLEARNUCLEAR NUNU ESTEESTE DIRECTDIRECT
PROPORTIONALAPROPORTIONALA CUCU GRADULGRADUL DEDE EVOLUTIEEVOLUTIE AA SPECIEISPECIEI
NUNU EXISTAEXISTA OO CORELATIECORELATIE NUMARNUMAR GENEGENE CANTITATECANTITATE ADNADN
EXPLICATIAEXPLICATIA:: GENOMULGENOMUL UMANUMAN AREARE 3000030000 GENEGENECECE CONTROLEAZACONTROLEAZA CARACTERECARACTERE CELULARECELULARE SISI INDIVIDUALEINDIVIDUALE
MECANISMULMECANISMUL DENATURARIIDENATURARII // RENATURARIIRENATURARII SISI
HETEROGENITATEAHETEROGENITATEA SECVENTELORSECVENTELOR ADNADNCROMOZOMALCROMOZOMAL
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ADNADN REPETITIVREPETITIV
ESTEESTE NONINFORMATIONALNONINFORMATIONAL
INALTINALT REPETITIVREPETITIV-- 1010--1515%% DINDIN GENOMULGENOMUL CELULARCELULAR
UNITATEAUNITATEA REPETITIVAREPETITIVA AREARE OO SECVENTASECVENTA DEDE55--1010
NUCLEOTIDE NUCLEOTIDE REPETATEREPETATE 101055--101077// POTPOT FIFI MAIMAI MULTEMULTE
SECVENTESECVENTE DIFERITEDIFERITE
RENATUREAZARENATUREAZA RAPIDRAPID
NUNU EXISTAEXISTA ININ CROMOZOMULCROMOZOMUL YY
NUNU SESE TRANSCRIUTRANSCRIU ININ ARNmARNm
ROLROL DISCUTABILDISCUTABIL ININ PROTECTIEPROTECTIE SAUSAU ORGANIZAREORGANIZARE
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ADNADN REPETITIVREPETITIV
MODERATMODERAT REPETITIVREPETITIV--2525--3030%% DINDIN ADNADN CELULARCELULAR
COEFICIENTCOEFICIENT DEDE REPETABILITATEREPETABILITATE DEDE 101033--1010--44
SECVENTASECVENTA REPETITIVAREPETITIVA 150150--300300 PERECHIPERECHI DEDE
NUCLEOTIDENUCLEOTIDE
INTERCALATINTERCALAT INTREINTRE SECVENTELESECVENTELE NEREPETITIVENEREPETITIVE
AREARE ROLROL REGLATORREGLATOR ININ GENOMULGENOMUL CELULARCELULAR
LOCLOC DEDE FIXAREFIXARE PENTRUPENTRU MOLECULELEMOLECULELE IMPLICATEIMPLICATE
ININ TRANSCRIPTIETRANSCRIPTIE
EXISTAEXISTA SECVENTESECVENTE GENETICGENETIC ACTIVEACTIVE-- HISTOGENE,HISTOGENE,ARNt,ARNrARNt,ARNr..
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PALINDROMULPALINDROMUL
SECVENTASECVENTA PARTICULARAPARTICULARA DEDE ADNADN REPETITIVREPETITIV
AREARE SIMETRIESIMETRIE ROTATIONALAROTATIONALA
FORMATFORMAT PEPE PRINCIPIULPRINCIPIUL COMPLEMENTARITATIICOMPLEMENTARITATII CUCU BUCLEBUCLECATENARECATENARE
AREARE LUNGIMELUNGIME VARIABILAVARIABILA 66--1212 NUCLEOTIDENUCLEOTIDE
STRUCTURASTRUCTURA CUCU ASPECTASPECT DEDE ACAC DEDE PARPAR POATEPOATE CONTINECONTINE TRANSPOZONITRANSPOZONI(( GENEGENE SARITOARE)SARITOARE)
ININ GENOMGENOM EXISTAEXISTA 120000120000 DEDE PALINDROAMEPALINDROAME
ROLROL-- RECUNOASTERECUNOASTE ENZIMELEENZIMELE IMPLICATEIMPLICATE ININ REPLICAREAREPLICAREAADNADN SAUSAU ININ TRANSCRIPTIETRANSCRIPTIE
ESTEESTE RECUNOSCUTRECUNOSCUT DEDE ENZIMELEENZIMELE DEDE RESTRICTIERESTRICTIE
SESE INTILNESTEINTILNESTE LALA NIVELULNIVELUL TELOMERELORTELOMERELOR..
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ADN NEREPETITIVADN NEREPETITIV
SUNTSUNT SECVENTESECVENTE UNICEUNICE
REPREZINTAREPREZINTA 5050--7070%% DINDIN GENOMGENOM
ALTERNEAZA ALTERNEAZA CUCU CELCEL NEREPETITIVNEREPETITIVDINDIN CROMOZOMCROMOZOM
ESTEESTE INFORMATIONALINFORMATIONAL
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GENOMUL MITOCONDRIALGENOMUL MITOCONDRIAL
REPREZINTAREPREZINTA 11--22%% DINDIN TOTALULTOTALUL ADNADN CELULARCELULAR
ESTEESTE BICATENAR,BICATENAR, ININ DUBLUDUBLU HELIX,HELIX, CIRCULARCIRCULAR
POATEPOATE SUFERISUFERI MUTATIIMUTATII
CODIFICACODIFICA 3030 DEDE GENEGENE STRUCTURALESTRUCTURALE
DETINEDETINE 1700017000 DEDE PERECHIPERECHI DEDE BAZEBAZE
GENEGENE IMPLICATEIMPLICATE ININ LANTULLANTUL RESPIRATORRESPIRATOR--
CITOCROMCITOCROM bb CITOCROMCITOCROM--oxidaza,oxidaza, ATPATP--aza,aza, 2222 GENEGENE
PENTRUPENTRUARNtARNt SPECIFICSPECIFIC SISI ARNrARNr
SINTEZASINTEZA ACESTORACESTOR PROTEINEPROTEINE POATEPOATE FIFI INHIBATAINHIBATA
MEDICAMENTOSMEDICAMENTOS
NUNU AREARE SECVENTESECVENTE NONINFORMATIONALNONINFORMATIONAL
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GENOMUL MITOCONDRIALGENOMUL MITOCONDRIAL
SESE ASEAMANAASEAMANA CUCU ADNADN BACTERIANBACTERIAN
SESE REPLICAREPLICA SEMICONSERVATIVSEMICONSERVATIV INDEPENDENTINDEPENDENT DEDE ADNADNCROMOZOMIALCROMOZOMIAL AVINDAVIND COMPLEXCOMPLEX ENZIMATICENZIMATIC PROPRIUPROPRIUPENTRUPENTRU REPLICAREREPLICARE SISI TRANSCRIERETRANSCRIERE
DETERMINADETERMINA EREDITATEAEREDITATEA MATROCLINAMATROCLINA
POATEPOATE DETERMINADETERMINA EXPRESIAEXPRESIA FENOTIPICAFENOTIPICA AA UNORUNOR CARACTERECARACTERETRANZITORIITRANZITORII SAUSAU PERMANENTEPERMANENTE
CARACTERELECARACTERELE SUNTSUNT DETERMINATEDETERMINATE DEDE PLASMAGENEPLASMAGENE AA CARORCARORTOTALITATETOTALITATE == PLASMOMPLASMOM MITOCONDRIALMITOCONDRIAL
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CRITERII DE IDENTIFICARE A CARACTERELORCRITERII DE IDENTIFICARE A CARACTERELOR
MITOCONDRIALE:MITOCONDRIALE:
REZULTATEREZULTATE DIFERITEDIFERITE DUPADUPA FECUNDATIEFECUNDATIE CECE NUNU
RESPECTARESPECTA REGULILEREGULILE
DETECTAREADETECTAREA FACTORILORFACTORILOR EXTRANUCLEARIEXTRANUCLEARI CECE NUNU
RESPECTARESPECTA SEGREGAREASEGREGAREA
DACADACA SESE PRACTICAPRACTICA CONSANGHINIZAREACONSANGHINIZAREA APARAPAR
CARACTERECARACTERE MATERNEMATERNE DUPADUPA 22--33 GENERATIIGENERATII
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Human Genome ProjectHuman Genome Project
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Human GenomeProjectHuman GenomeProject
Goals: identifyalltheapproximate 30,000 genesinhuman DNA,
determinethesequencesofthe 3 billionchemicalbasepairsthatmakeup
human DNA,
storethisinformationindatabases,
improvetoolsfordataanalysis,
transferrelatedtechnologiestotheprivatesector, and
addresstheethical, legal, andsocialissues(ELSI)thatmayarisefromtheproject.
Milestones: 1990:ProjectinitiatedasjointeffortofU.S.DepartmentofEnergyandtheNational
InstitutesofHealth
June2000:Completionofa workingdraftoftheentirehumangenome
February2001:Analysesofthe workingdraftarepublished
April2003:HGPsequencingiscompletedandProjectisdeclaredfinishedtwoyears
aheadofschedule
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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Whatdoesthedrafthuman
genomesequencetellus?
By the Numbers
The human genome contains 3 billion chemical nucleotide bases (A, C, T, and G).
The average gene consists of3000bases, but sizes vary greatly, with the largest
known human gene being dystrophin at 2.4 million bases.
The total number of genes is estimated at around30,000--much lower than
previous estimates of 80,000 to 140,000.
Almost all (99.9%) nucleotide bases are exactly the same in all people.
The functions are unknown for over50% of discovered genes.
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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Whatdoesthedrafthuman
genomesequencetellus?
The Wheat from the Chaff
Less than 2% of the genome codes for proteinsLess than 2% of the genome codes for proteins.
Repeatedsequencesthatdonotcodeforproteins("junkDNA")makeupatleast50%ofthehumangenome.
Repetitivesequencesarethoughttohavenodirectfunctions, buttheyshedlight
onchromosomestructureanddynamics.Overtime, theserepeatsreshapethe
genomebyrearrangingit, creatingentirelynew genes, andmodifyingand
reshufflingexistinggenes.
Thehumangenomehasamuchgreaterportion(50%)ofrepeatsequencesthan
themustard weed(11%), the worm(7%), andthefly(3%).
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How doesthehumangenomeHow doesthehumangenome
stackup?stackup?
OrganismOrganism Genome SizeGenome Size
(Bas
es
)(Bas
es
)
EstimatedEstimated
Gen
es
Gen
es
Human (Human (HomosapiensHomosapiens)) 3 billion3 billion 30,00030,000
Laboratorymouse (M. musculus)Laboratorymouse (M. musculus) 2 .6 billion2.6 billion 30,00030,000
Mustard weed(Mustard weed(A. thalianaA. thaliana)) 100million100million 25,00025,000
Roundworm(Roundworm(C. elegansC. elegans)) 97million97million 19,00019,000
Fruitfly(Fruitfly(D. melanogasterD. melanogaster)) 137million137million 13,00013,000
Yeast(Yeast(S. cerevisiaeS. cerevisiae)) 12.1million12.1million 6,0006,000
Bacterium(Bacterium(E. coliE. coli)) 4.6million4.6million 3,2003,200
Humanimmunodeficiencyvirus(HIV)Humanimmunodeficiencyvirus(HIV) 97009700 99
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Genenumber, exactlocations, andfunctions Generegulation
DNAsequenceorganization
Chromosomalstructureandorganization
NoncodingDNAtypes, amount, distribution, informationcontent, and
functionsCoordinationofgeneexpression, proteinsynthesis, andpost-translational
events
Interactionofproteinsincomplexmolecularmachines
Proteomes(totalproteincontentandfunction)inorganisms
CorrelationofSNPs(single-baseDNAvariationsamongindividuals) withhealthanddisease
Disease-susceptibilitypredictionbasedongenesequencevariation
Genesinvolvedincomplextraitsandmultigenediseases
Developmentalgenetics, genomics
FutureChallenges:
WhatWeStillDont Know
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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AnticipatedBenefitsofAnticipatedBenefitsof
GenomeResearchGenomeResearch
MolecularMedicine
improvediagnosisofdisease
detectgeneticpredispositionstodiseasecreatedrugsbasedonmolecularinformation
usegenetherapyandcontrolsystemsasdrugs
design customdrugs(pharmacogenomics)basedonindividualgeneticprofiles
Microbial Genomics
rapidlydetectandtreatpathogens(disease-causingmicrobes)inclinicalpractice
developnew energysources(biofuels)
monitorenvironmentstodetectpollutants
protectcitizenryfrombiologicalandchemical warfare
cleanuptoxic wastesafelyandefficiently
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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RiskAssessment
evaluatethehealthrisksfacedbyindividuals whomaybeexposedtoradiation
(includinglow levelsinindustrialareas)andtocancer-causingchemicalsandtoxins
Bioarchaeology,Anthropology, Evolution, and HumanMigration
studyevolutionthroughgermlinemutationsinlineages
studymigrationofdifferentpopulationgroupsbasedonmaternalinheritance
studymutationsontheYchromosometotracelineageandmigrationofmales
comparebreakpointsintheevolutionofmutations withagesofpopulationsand
historicalevents
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
AnticipatedBenefitsofAnticipatedBenefitsof
GenomeResearchGenomeResearch--cont.cont.
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DNA Identification (Forensics)
identify potentialsuspects whose DNAmay match evidence left at crime
scenes
exoneratepersons wronglyaccusedofcrimes
identify crime andcatastrophe victims
establish paternity andother family relationships
identifyendangeredandprotectedspeciesasanaidto wildlifeofficials(couldbe
usedforprosecutingpoachers)
detectbacteriaandotherorganismsthatmaypolluteair, water, soil, andfoodmatch organdonors with recipients in transplant programs
authenticate consumablessuch ascaviarand wine
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
AnticipatedBenefitsofAnticipatedBenefitsof
GenomeResearchGenomeResearch--cont.cont.
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Anticipated Benefits:
improveddiagnosisofdisease
earlierdetectionofgeneticpredispositionstodisease
rationaldrugdesign genetherapyandcontrolsystemsfordrugs
personalized, customdrugs
MedicineandtheNewMedicineandtheNew
GeneticsGenetics
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
GeneTesting Pharmacogenomics GeneTherapy
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ELSI:Ethical, Legal,ELSI:Ethical, Legal,
andSocialIssuesandSocialIssues
Privacyandconfidentialityofgeneticinformation.
Fairness in the use of genetic information byinsurers, employers, courts, schools,adoptionagencies, andthemilitary, amongothers.
Psychological impact, stigmatization, anddiscrimination duetoanindividualsgeneticdifferences.
Reproductiveissues including adequate and informed consent and use of genetic
information in reproductive decision making.
Clinicalissues including the education of doctors and other health-service providers,people identified with genetic conditions, and the general public about capabilities,
limitations, and social risks; and implementation of standards and quality-control
measures.U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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ELSIIssuesELSIIssues(cont.)(cont.)
Unc
ertain
tiesassoc
iate
dwith ge
ne te
st
sf
or
su
sceptibi
litie
sand
com
ple
x
conditions (e.g., heartdisease, diabetes, andAlzheimersdisease).
Fairness inaccess toadvanced genomic technologies.
Conceptualand philosophical implications regardinghumanresponsibility, free willvsgeneticdeterminism, andconceptsofhealthanddisease.
Health and environmental issues concerninggeneticallymodified(GM)foodsandmicrobes.
Commercializationof products includingpropertyrights(patents, copyrights, and
tradesecrets)andaccessibilityofdataandmaterials.
U.S.DepartmentofEnergy GenomePrograms, GenomicsandItsImpactonScienceandSociety, 2003
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HapMapAn NIH program to chart genetic variation
within the human genome
Begunin2002, theprojectisa3-yeareffortto
constructamapofthepatternsofSNPs(single
nucleotidepolymorphisms)thatoccuracross
populationsinAfrica,Asia, andtheUnited
States.Consortiumofresearchersfromsixcountries
Researchershopethatdramaticallydecreasing
thenumberofindividualSNPstobescanned
willprovideashortcutforidentifyingtheDNA
regionsassociated withcommoncomplex
diseases
Mapmayalsobeusefulinunderstandinghow
geneticvariationcontributestoresponsesin
environmentalfactors