2.Curs Structura Adn

8/3/2019 2.Curs Structura Adn

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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.



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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



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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



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RiskAssessment

evaluatethehealthrisksfacedbyindividuals whomaybeexposedtoradiation

(includinglow levelsinindustrialareas)andtocancer-causingchemicalsandtoxins

Bioarchaeology,Anthropology, Evolution, and HumanMigration

studyevolutionthroughgermlinemutationsinlineages

studymigrationofdifferentpopulationgroupsbasedonmaternalinheritance

studymutationsontheYchromosometotracelineageandmigrationofmales

comparebreakpointsintheevolutionofmutations withagesofpopulationsand

historicalevents



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



GenomeResearchGenomeResearch--cont.cont.


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Anticipated Benefits:

improveddiagnosisofdisease

earlierdetectionofgeneticpredispositionstodisease

rationaldrugdesign genetherapyandcontrolsystemsfordrugs

personalized, customdrugs

MedicineandtheNewMedicineandtheNew

GeneticsGenetics


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.



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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

2.Curs Structura Adn

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