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Great Scientists & Discoveries HONOR 3215
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This 24 page Class Notes was uploaded by Retha MacGyver on Monday October 26, 2015. The Class Notes belongs to HONOR 3215 at University of Utah taught by Staff in Fall. Since its upload, it has received 38 views. For similar materials see /class/229959/honor-3215-university-of-utah in Honors at University of Utah.
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What is Forensic DNA Legal Challenges amp Applications Basic Technology Popular Perceptions Criminal Justice DNA Pro le Lecture 11 Investigation 1985 accidental discovery Prosecution STRs and Loci Postconviction SNPsmtDNAY paternity Chromosome ID for mass casualty Reuniting families Two Types of lnfonnatlon AnimalsV nes lqemlfy Collectables Kmsmp Four Issues Four Issues 1 Legal Challenges Science amp Law 1 Legal Challenges Science amp Law 2 Popular Perceptions CSl amp Families 2 Popular Perceptions CSl amp Families 3 DNA Dragnets amp Databases CODIS 3 DNA Dragnets amp Databases CODIS 4 Forensic Futures Expansions 4 Forensic Futures Expansions UK Origin Story 1985 Immigration Case UK 0 Discovered 1985 Alec Jeffreys 39 E l gg el u mnaemp W 0 1985 Immigration case BloodsarnplesUsed 1986 Pitchfork case A W 39 a iii i iiiioi ii Qu ICk success e 99 aaaaaam certalntyrnotheranu buy related e 99 997 certalrl boy was bluluglcal sun 0 Rapid Adoption in US crosseexarnlrlatlorl in trlburlal No legal precedent 1986 P tohfork Case UK gagging gg igmlmmuamamhlgl pjmaxlxvmwmmnm nmmu mm maneumuxmnwmxaaman mm mmmmm lhmthamugn Mmmmm O Luck Success mm me My maydayYams Use m DNA ngemnmmg mmn a veav m msmvew 1 gas Forens o DNA WV USA wxx mwwwmwma mmym Mm vmvandsubbmv mummme gem quotmm scene mm mm c mm mmwmmm u Wimn cum 7 mm 5th can wvns um Pena vEuuman quotume H mm 7 mm quotmm mx Fmesubhshes mam 9 cums wmmmum magmaan 1 Lega ChaHenges Scwence and the Law DNA m Courtroom mgusemoNApmmgmuseummna mamh m Ms msmverv a mmenue mga demsmns w mmugmmn BESS thm a veav DNApm hng v asaccemed m cam mses and eslahhsmrvg ega mhngs Hawdaesthe mun Edam smemmc swan2257 Fwe and Dauben sandam Frye Standard 1923 M v um mmmza smemmcemde mm w Wquot mum mahadsandmeawusedm we m we gamma as awe m m neat m Name am useaVDNAvamvwasvaWka vmmldmm mmmg Legal Challenge in 1987 Case uuse Cas1m accused enmurderawuman and ner daudnier Eluud stain on Cas1m swris1vratch maicned sample Ulvlcllrn s blond A dnance dlranddrl naidn vest in iEQ ZUU UUU errand mseamcpapulaudntrscoosscarp Lanersle39V Schack andpeteruemeld cnallended DNA widence CariiValenceallablPassibleevmrslmmaniinatianalsa lples l rljauq Wmmemmmluasram earn n aslia laia as Daubert Standard 1993 Dauben y Dory Pharmaceuticals cniena sclenilnc lnlurmailun mus1 he relevantand renaue relevarl 7 me te m mm anexpen reilable ralldwndine suemmcriiethad implication luddes as EatekeEpers ulsclenilnc widence Are luddes duallnedid determine admissibilitymDNAevidenue7 Are lunes duallnedid determine reliabllny mDNAevidence7 Stephen Breyer p 1314 Judges don t have background in the natural sciences cenetlc science is rapidly changing affecting many aspects oflavy Law is complex many different leyels and aspects Legal institutions react slowly Questions Has DNA prufiling been adopted by tne courts too quickly ls tne Dauoert standard surnclent given tne background thhe ludlclal system Elreyer vvna cautions snould be considered Wnen using DNA eyldence ln tne criminallustlce systern7 e inve luatiunl musecmiun pustrcunvictiun 7 2 Popular Perceptions CSI amp Families The 08 Effect influence ofsnows ililte CSl on popular expectations for forensic science 7 quotUnrealistic expectations for forensic DNA in court 7 Also increased enrollment in forensic science programs Raised awareness of forensic use of DNA Three Myths of 08 Effect Unreahshc expectahons of and ovena uat on ofDN denoe 2 Aev um Fa se nun gimme 5 way u anwmm wuss WANNA mm avdslmvldDNAamence nun Iwysnm Fa se ahdY c mevs WWW mm Nme m mums DNAemdenceleH Sn Influence of CS Effec Nmmnsavgmu and hhauehue mavhe mmehued DNAammm vaesmpmsemlmhs and mhev egm swan passhe gwenmg expedmmh m DNA ewdehee 7 Vmsecmmrs w qum WW cm W DNAemdence 7 L55man2 A39aVca55 hweavvmweDNAewmence Emma s became av ave mFavehsDPmdme 7 Mmedn mmaddedand mam DNAewdehuea v vsxswevuedasgaad 7 Remuua39vakrma and vea pmb enswmdmabxe WWW m mm WWW m mm mummmmnw Family Ties Je Mews Desce um nm Mamsun hae hnkW 0uncmsmn a eas1 une mSaW Herm 5 Yath Je ev fferson amp em gsi suns an and Eas1un mam m Eastun uh Je evsuns nus suns even W a sun DNA Tests Offer Immigrants Hope or Despa MM hm AuuMu 2cm Fedeva umma save mueasmgN mm m genehc 251mm emmum a bundsbemeennwcmzensand he weweasve awes hev hupem bung heve pamcmaw thuse humwaHum m dwempmu cuunmeswheve New ducumems can be scavce umuumeu Emwhuethe 2 Hen eadm mm veumuns amung wmmvam Ya mm a su mmemhw awn mhevstu cumer unexpeueu an sumeumesunbeavame mm 2 WWW Fur M years 533 Olvusu s Issac s Family has remamed W Bantam e When he became an meneah muzeh and Emma s suggesied takmg a DNA testtu pruve hws rewauunsmp tn hxsfuur SDHS he embraced the hutmh But Ovvus at My uhe ufthe mm buys the mm was hws t bm ugma th What is a family 75 uuu uf aau uuu DNA fam y eases mque mmwgratmh eases 2mm Ofthuse 157mm an hut pruduee a match Parehtrch d re aho h p de ned by bxo ogy DNA Uhfawr mpedwmehts to reumoh forwmmwgrahts mpwexfammw 7 7 Cu 7 Abahduhmeht7 u Some Resources CSI Effec1 e W amde mm e 5 me 52ng K 95 E egwm many hnkstonews mdes s Effect 5 Wed B esemg for Rea Cnrne Labs By Stefan Lovgren Nauona Geograpmc News September 23 2004 0040sy0923 040923 cmmrn e csx showsgwe unreahsucvwew By Pam Bmcon BBC News 21 February 2005 r r I r Thomas Jefferson and Sally Hemings A Brief Account From Monlecelloorg mpIvmwmonlicelloorgmanlalionhemingsconlrohemings 39efferson conlro hlm Next Time DNA Databanks and Privacy Chapters 7 amp 9 Recommend all others DNA The Central Dogma amp Gene Expression Lecture 5 Genetics amp Society Honor Fall 2005 Bryan Bertham Outline 0 Review What is the secret of life What is a gene 0 The Central Dogma 0 Gene Expression Feb 28 1953 Two guys walk into a pub and declare they have the answer to the secret of life Secret of Life Complementarity is the secret of life A T and 60 Structure of DNA Needed forreplication Copies fast and accurate Replication is at the heart of all genetic functions DNA instructions blueprints for biological processes Instructions need to be replicated for each process How does this happen Cells 50100 million million W 200 different types Each makes what it needs to survive and do 39 sjob m my 7 as well as perform lts partlcular iurlctlol39l e g car oxygen and nutrlerlts liex contract send messages etc Process and produce various materials 7 Watermanu protelns carbohydrates fats rnlnerals car We mp wam pmwl What is a gene A gene is a SECUDH Elf 39xlawxauuaimnmx A gene is a section of DNA emu asum e eene Vrmeins Dwayne camvaunds meeeeemeeee Proteins do things made m chairs at me acids em mmmma Piatmns m humans How do genes make proteins The Central Dogma The Central Dogma Cataohism DNA makes DNA DNA makes RNA RNA makes Protein RNA Complementarity At each step Protein Sii nplifioation Central Dogma D N Replication RNA Protein DNA is the longterm storage medium It is too valuable to use for making things DNA is copied when cells divide 3 Complementarity allows DNA to be copied exactly Replication Complementarity 9 Central Dogma Replication Transcription RNA ll Protein Transcription RNA Polymerase Transcription Factors Promoters Regulatory regions MessengerRNAmRNA RNA is a temporary copy of the DNA information Valuable RNA is copied from 1 DNA RNA is copied from 1 DNA strand strand Transcription Transcription l l l l l l l l l l l l l l l l l l 39l l rl ccrAeAeeAeAcArAcrrececc eeArcrctrLrArArcAAtete lllllllllllllllllllllll ccrAeAeeAeA cArAc rrececi ccrAeAeeAeAcArAcrrececi EGMEYHVHMMGMHMG no rrrLctctorAreAnctceo mRNA messenger Complementarity again 25 26 RNA uses U in place ofT RNA uses 4 base pairs but instead ofThymine T it uses acil U Because DNA uses T not U the cell automatically assumes that U is the result of a C gone bad and removes all U bases from DNA NH2 0 o N NH NH 6 l l we Nto ps0 H H C U T Central Dogma Replication Transcription RNA 1 Translation Protein Protein is the final product of the information mRN Translation Protein Translation Messenger RNA mRNA Ribosome Codons Transfer RNA Amino Acids Proteins Proteins are made of 20 different amino acids M Wan mm tllanranisl Amino acids can be linked together SH W K C 1 HENLCODH Hg cooH FALSENP men 0 Proteins are long chains of amino acids 3 real protein Wuuld have hundreds nr aminu acids Proteins are long chains of amino acids Proiein chains fold inio complex shapes that depend on the sequence of amino Hemugium ac39d n An transfer RNA adapter is used to convert RNA to Protein Amino Acid tRNA U A C tRNa is made similarly in transcription 37 Complementarity is used to convert the information in RNA into protein Amino Acids tRNA Complementarity is used to convert the information in RNA into protein W Protein A mRNA AUG is the translation start UAA UAG or UGA are stop W Protein Codons 4D Universal Genetic Code mum um ucn uAu us a WC 066 A 7 U6 uuA uc an Us nun use mg c nun m i c at Cu 5 nuts cca 55 N w 6 a mu m Asc m 5 5 us39 m mat ecu q W n mg ecc m m emngW ecA an 56 ausv ace 37 a we 39 M Where do these events occur in the cell V Replication ex Protein synthesis Replication Nucleus Not shown Transcription Nucleus Translation Otoplasm Proteins Cellular Outside Central Dogma Exceptions DNA I RNA viruses RNAgt Protein no DNA RNA RNAi RNAgt RNA no DNA or Protein Retroviruses RNA gt DNA Prions Protein gt Protein Catalytic RNA DNAgt RNA no Protein Alternative Splicing 1 DNA gt multiRNA Protein 4B Alternative Splicin 3559 of genes have at last one alternative splice form EEE DNA Transcnpunn T r W Mm A lmrninve Splicing l mm leullalion l q Quick Review The secret of life is complementarity DNA is the blueprint for biological processes Genes are a section of DNA Genes make protein Central Dogma Proteins do things Question If every cell has identical DNA how each cell know what to do and what not to do Gene Expression Gene Expression Different cells perform different functions because the different cells have different genes turned on and others turned off Gene expression how some genes get turned on and others turned off Turn on or Turn off means expressing or not expressing proteins central dogma Different cells copy different parts of the DNA into RNA Hemoglobi lnsulil 51 Different cells copy different parts of the DNA into RNA Blood cell Hemoglobi 0 mRNA hemoglobin lnsulil Different cells copy different parts of the DNA into RNA Pancreas cell Hemoglobi Q t O InSUIIl mRNA insulin 53 Gene Expression How genes make their products ie perform their function at the right time and in the right place Promoters and Transcription Factors Junk DNA Epigenetics Mythelation and Histones Environment Promoters and Transcription Factors Promoters are parts of a gene that identify that gene and determine when where and how much of its product gets produced Transcription Factors are proteins which interact with DNA eg attach to beginning of gene to control transcription Not all of the DNA gets copied into A gene is a piece of DNA that makes a protein Not all of the DNA gets copied into RNA Agene is a piece of DNA that makes a protein H I promoter Some of the DNA encodes when where and how much of the RNA to make This is called the promoter 57 Transcription factors control gene expression Tran cription factor A H I promoter Transcription factors control gene expression Tran cription factor promoter Question Where do transcription factors come from Junk DNA 0 Junk DNA refers to the noncoding regions of DNA but research shows that junk DNA ain t so much junk 0 It appears that the noncoding regions regulate some gene expression Epigenetics Another way that gene expression is controlled is by limiting physical access to that gene Methylation attaching a methyl group to DNA at the which effectively blocks transcription Histones DNA is packaged in loops around balllike structures called histones In regions of DNA that are tightly packag those genes are not accessible for transcription Those regions that are looser are accesible In both cases the mechanism for transcription RNA polymerase etc can not reach the genes m m main nmvnnems nfllulvig nuticmd mm mm mm Lifestyle and environment may effect one s epigenetic code Also may be inherited m Nwa Science vavideu W W Environment 0 Sun 0 Smoking 0 Exercise 0 Food 0 Atmosphere 0 Etc Environment The gene may not be central to the phenotype at all or at last t shares the spotlight with other influences Environmental tissue and cytoplasmic factors clearly dominate the phenotypic expression processes which may in turn be affected by a variety of unpredictable proteininteraction events Paul Sliverman Genotype does not equal phenotype Genes provide possibility or propensity but do not independently determine product or expression The exact types and amounts of protein made by our DNA make us what we are Genes in some well known organisms ltlEI gm l mm 12 M base palrs 97 M base pairs B SEIEI genes lawn genes Genes in some well known organisms l rn lEI rn mm M base palrs 125 M base palrs 13mm genes 255nm genes Genes in some well known organisms 3 bllllunlbase palrs u genes 25mm M base palrs 3u uu genes The exact types and amounts of protein made by our DNA make us what we are D Protein What is the central dogma DNA RNA Protein How does complementarity fit into the central dogma Reprogenetics Lecture 8 Geneiics eiy all 2008 Bryan Benham Honor 392 Louise Brown 25 July 1978 lnvitro Fertilization IVF Evenng ltlews39 I W first testLube arrival 30 years 4 million babies Revolution F 2 IVF In vitro Fertilization 1990 r F 39 0 First reported pregnancy with PGD F Preimplantation Genetic Diagnosis M MI Also first sex selection in IVF ii my Opened the door 9W n immfeurd IVF In vitro Fertilization 9 Egg and sperm ng5 lemma r p0 0363 six efen izanon Ow aumulaied Y multiple modes matuu xii div id in mm um um IVF In vitro Fertilization 9 Egg and sperm kw lemma r p0 r 06G six efen izanon o Ovary stimulated mingle nouns marine xii div id in mm PGD at this stage um um PGD Preimplantation Genetic Diagnosis Reproductive Chorces At the 4 to 8 cell stage of the em 0 da 3 two cells are removed for nalysis Prenatal screening 0 mon use oftests to indicate health of embryofetus Choices terminate abortion or carry to term Embryo con inues to develop Negative results o en end in abortion normally because cells are totipotent PGD V th IVF used to select embryos prior to implantation Reduces need for abortion and risk offull pregnancy Expensive and demanding for woman Results available 2 days prior to implantation Cws anu inuuse iesuiis inuicaie anu success in humans is cunsistem with inese iesuiis L 7 lmave nupwueieniiueeniei arvpauemPvd html Prenatal Imaging Issues With Prenatal Screening Imaging technology only identifies imaged anatomical features not genetic information Amniocentesis and CVS are invasive with risks Fetal cell isolation can be unreliable Prenatal tissue samples from 89 weeks Amniocentesis samplefrom amniotic fluidto test for certain chromosomes genes or rrzymes risk erreiminarion o 5 1200 All require the pregnancy to have progressed substantially earliest 8 9 weeks option is WWWN5720 amp 9 quotquot quotquot quotquot W to carry or terminate pregnancy either may have risks to mother and fetus 39 39 39 39 maternaiiiuiu i ii iaiceiis noninvasive but dirricuirro isolate a PGD Alternative Who Uses PGD Using IVF PGD can diagnosis fertilized eggs By 2005 Over 700 children born worldwide prior to implantation reducing abortion and from 50 dl e ent Programs USIWQ PGD from pregnancy associated risks 1990 on wir birthsyear axzei Screened embryos can be implanted frozen Recommended for couples at risk for genetic or discarded termination not necessary conditions eg women over 35 or want tissue match but want to avoid pregnancy Some risk to embryo 2550 destroyed in termmatlon 39U W I process some risk to mother in virtue of IVF But could be used for extensive embryo ii selecton PGD Issues Benefits and Harm Parental autonomy is increased bene ts to resulting child lower social costs Harm to embryos not selected reduced social tolerance stress on family relationships Selection instrumentalizes child Va ue of child measured against parents desires Reproduction is commodi ed Selection devalues those with condition lExDreSSDlsmm Disabilities Dovm s syndrome Dwar sm Deaf Blind etc Sex Boys vs Girls 14 PGD Issues A New Eugenics Neumayr vs Silver Notions of perfection and improvement ofhuman species Freemarket eugenics state control vs individual choices Two Slippery Slopes More selection opens the door Genetic haves and havenots Justice Gattaca And disturbed social organization familial relations concepts ofhealth and normality Next Time Babies by Design Postscript PGD Issues 0 Benefitand Harm Autonomy New Eugenics 0 Two Slippery Slopes PGD Bene ts amp Harms Bene t Harm Parents are trying to do Harm some good for their children principle of bene cence providing them with a better future without disease or disability an avoidable harm to embryos not selected or destroyed in process For some conditions devalues existing persons condi ion with gene ic selected against generic Perhaps lowering social cost essentialism39 possibly of support for diseased or undermining social support disabled persons for those persons PGD amp Autonomy Procreative Autonomy Respect for Persons def Individuals should not def Never treat persons as means only persons deserve due consideration their children except in N leas in Nash case 95 of Clear harm m selection forAd m w s for Ch39ldrequot39 bene t of Molly no bene t to Adam plus some risk No harm to child in PGD so no groundsforinterference omercases PGD New Eugenics No Yes No state compelled Even if choice is with decisions individual not state there are collec Ive socIal consequenceseg devalue person Choice is entirely up to individual actually increases reproductive freedoms Individual choice is not without social in uences Two PGD Slippery Slopes Slope A Slope B Selection for which Unequal access to conditions technology leads to divides between the gene ic have39s Severe commons only and havenot39s Justice Disabilities Sex Leads to an unjust future Late onset Physical traits homosexuality aggression Silver and Neumyer In the assigned readings Silver and Neumyer argue that use of technologies such as PGD are a new eugenicsquot and will likely lead to a certain type of future Is the new eugenicsquot a good or bad thing Why Who do you agree with most New Eugenic Arguments Silver PRO Neumayr CON Ensure children lead Values certain traits as goodpainfree lives 0 d Choices under parental control not state mandate Allows foresight to plan 39 39FdiVidual ChOiCe not for Im nee s of children une la etc pressure and Social bene ts eg 39 CONGO IVe reduced disease COHSEQUEHCES of individual choices Loss of potential bene t for society 24 increased economy etc Selecting Disability Using PGD to select against some genetic conditions raise interesting dilemmas For example selecting against congenital deafness or dwarfism is thought to devalue those people w o are deaf or dwarfs in effect telling these people that they have lives not worth living As a response deaf and dwarf communities have made strides to use PGD and Prenatal screening to purposely select for embryos with congeni l deafness or dwarfism 25 Selecting Disability Is this use of PGD and Prenatal screening unethical Does it devalue the lives of those persons with the trait Why or why not Some have suggested a similar argument supports not selecting against certain disabilities such as Trisomy 21 Down Syndrome because many Down syndrome people live happy productive lives and selecting against Trisomy 21 devalues these people and may actually undermine critical support systems that make Down syndrome lives rich and rewarding 26 Recommendation of American College of Obstetricians and Gynecologists regardless of age should be offered screening for Down syndrome New standard of care Estimates are that 90 of pregnant women given diagnosis of Down syndrome choose abortion PGD may avoid this high rate of abortion Down syndrome groups protest that this policy amounts to a eugenics program against down syndrome individuals Early 2007 ACOG recommends aH pregnant women Termination for Fetal Characteristics 0 Assuming curative therapy is not available 80 thought termination OK for alcoholism 65 for obesity Prenatal diagnosis appropriate in some circumstances for Homosexuality 27 Short stature 25 Absence of perfect musical pitch 18 Author Milner et al AJMG Subjects Adults in early 205 Termination for Fetal Characteristics N a E a o C 11 395 a m Abor on should be legal Would abort 56 quot11 O r i 3 e a Onset60 Gender Wen D Rzpmdvmve Techmlngy AnAnthnlngy m2 Another Principle 0 The focus of genetic testing eg PGD should be to ameliorate suffering from disease and disability not to fulfill individual desires 0 Is this as viable principle Is it part of the principle of beneficence Genetic Tests and Free Market Two recent articles New York Times and Science point to the increased efforts to sell direct to customers genetic tests that claim to identify certain risks for diseases including psychiatric conditions Businesses argue this is information that individuals not medical authorities should have Opponents argue inaccuracies lack of medical expertise or counseling accompanying test results and rapid growth of market indicate potential harms and probably requires closer government regulation Genetic Tests and Free Market Will this market approach contribute to the increased use of technologies such as PGD and prenatal screening Good or bad Will it contribute to a social value placed on certain genetic traits iiin lnnifr nn Gener i ll Science are January r8 2747277 Pear Robert 2 08 Growth of Genetic Tests concerns Federal Panel The New Vnrk Times January r8 Closing Questions How should we use genetic information in reproductive decisions How should we use PGD and prenatal screening Does the cautionary tale of eugenics help us answer these questions
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