Makingbabies:GeneticallyCorrectZhiHuaRanThedepartmentofGastroenterologyRenJiHospitalAGlossaryofGeneticsTermsGene:basicunitofinheritanceforalllivingorganismsGenome:GeneticendowmentofaspeciesGenemapping:DetermininglocationofgenesonchromosomeGenesequencing:Determiningidentityofgenesfromthedistinctiveorder(sequence)ofbasepairs,suchasA-TandG-CChromosome:Threadlikestructureinthenucleiofplantandanimalcells;itcarriesthelinearlyarrangedgeneticunits(genes)AGlossaryofGeneticsTermsNucleicacid:Large,chainlikemoleculeofphosphricacid,sugarandpurineandpyrimidinebasesMarker:GenewithaknownlocationonachromosomeTemplate:Macromolecularmodelforanothermacromolecule,asinthesynthesisofRNAfromaDNAtemplateTransgenic:Organism,suchasamouse,containingexperimentallytransferredgeneticmaterialfromanotherorganism,suchasmammalMutation:AbruptchangeinthegenotypeofanorganismthatisnottheresultofrecombinationAGlossaryofGeneticsTermsRecombination:FormationinoffspringofgeneticcombinationsnotpresentinparentsGenotype:ThegeneticconstitutionofanindividualPhenotype:Theobservablecharactersofanorganism;theresultofthewaythegenesareexpressedGeneticdefect:Pathologicalchangesthatoccurbyduplication,deletionorrearrangementofDNATranscription:TheprocessbywhichRNAisformedfromDNANucleotide:ThestructuralunitofnucleicacidAGlossaryofGeneticsTermsRT-PCR:ReversetranscriptasepolymerasechainreactionGenetherapy:AtechniqueforcorrectingdefectivegenesresponsiblefordiseasedevelopmentDNAmicroarray:Anexperimentaltoolforobtaininghigh-throughputgeneexpressiondataStemcell:havetheremarkablepotentialtodevelopintomanydifferentcelltypesinthebody.Servingasasortofrepairsystemforthebody,theycantheoreticallydividewithoutlimittoreplenishothercellsaslongasthepersonoranimalisstillalive.Whenastemcelldivides,eachnewcellhasthepotentialtoeitherremainastemcellorbecomeanothertypeofcellwithamorespecializedfunction,suchasamusclecell,aredbloodcell,orabraincell.MilestonesofGeneticsDiscoverthedouble-helixstructureofDNA---byJamesWatsonandFrancisCrickMappingthehumangenome---TheHumanGenomeProject,completedin2001CreatethefirstrecombinantDNAmolecule---byPaulBergDiscovertheDNAstructure1953---JamesWatson/FrancisCrickDouble-helixstructureofDNABiography---JamesWatsonBorninChicago,April6,1928Hisfather‘sancestorswereoriginallyofEnglishdescentHismother‘sfatherwasScottish-borntaylormarriedtoadaughterofIrishimmigrantswhoarrivedintheUSabout1840SpententireboyhoodinChicagoBiography---JamesWatsonStudyatUniversityofChicagoat1943In1947,receivedaB.Sc.degreeinZoologyDuringtheseyears,hisboyhoodinterestinbird-watchinghadmaturedintoaseriousdesiretolearngeneticsHisPh.DthesiswasastudyoftheeffectofhardX-raysonbacteriophagemultiplicationIn1950,receivedPh.DdegreeinZoologyatIndianaUniversityBiography---JamesWatsonInthespringof1951,hechangehisdirectionofhisresearchtowardthestructuralchemistryofnucleicacidsandproteinsMetCrickat1952,commoninterestinsolvingtheDNAstructureSolvedinearlyMarch,1953---theproposalofthecomplementarydouble-helicalconfiguration1953~1955attheCaliforniaInstituteofTechnologyasSeniorResearchFellowinBiology1956,AssitantProfessor,HarvardBiologyDepartment1958,AssociateProfessor1961,ProfessorBiography---JamesWatson1962,TheNobelPrizeinPhysiologyorMedicineBornonJune8,1916atNorthampton,EnglandIn1937,obtainedaB.Sc.InPhysicsatLondonDuringthewar,heworkedasascientistfortheBritishAdmiraltyBiography---FrancisCrickLefttheAdmiraltyin1947tostudybiologyStartedtolearnbiologyin1937,interruptedbyWorldWarTwoJoinedtheMedicalResearchCouncilUnitsince1949Restartedin1950,obtainedPh.Din1954Biography---FrancisCrick1962,TheNobelPrizeinPhysiologyorMedicineDiedat2004WorkedoutthegeneraltheoryofX-raydiffractionbyahelixBornonJune30,1926,NewYorkBiography---PaulBergBestknownforhisdevelopmentofatechniqueforsplicingtogetherDNAfromdifferenttypesoforganisms.Hisachievementgavescientistsatoolforstudyingthestructureofviralchromosomesandthebiochemicalbasisofhumangeneticdiseases.Gainedearlyrecognition/influencewhenhedelineatedthekeystepsinwhichDNAproducesproteinsAwardedtheNobelPrizeforChemistryin1980TheHumanGenomeProjectBeganat1990Draftsequencewaspublishedin2001FoundedbyUSdepartmentofEnergy(DOE),USNationalInstituteofHealth(NIH)incollaborationwithBritainsWellcometrustTheHumanGenomeProjectCeleraGenomics,aprivatecompanybasedinMaryland,ispublishingitsfindingsinScience.Humanhaveabout30,000genesApublicinternationaleffort,ledbytheUnitedStates,ispublishingitsanalysisofthegenomeinNature,aBritishjournal.GeneticdifferencesbetweenanytwopeoplearerelativelysmallTheHumanGenomeProject---morepowerfultoolsDurgdevelopment,customizingdrugstoindividualgeneticprofilesEarlierdiagnosisofdiseaseInVitroFertilization---historyThetechniquewasdevelopedintheUKbyDr.PatrickSteptoeandRobertEdwardsFirst“testtube“baby:InUK,LouiseBrown(July,1978ThefirstinUS:ElizabethCarrbyDr.HowardandGSJones(1981)Second“testtube“baby:InIndia,KanupriyaAgarwalbyDr.Mukhopadhyay(Oct,1978)Sincethen,IVFhasexplodedinpopulatiry,accournts1%ofallbirth,115,000intotalinUSThefirst“test-tube“babyInVitroFertilization---historyL