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IX. Human Disorders

IX. Human Disorders. S e x-l i nk e d disorders Th e se ge n es are found on the X chromosome. C o l o r bl i nd n ess – 1 in 10 males; 1 in 100 f emales H e mop h i l ia – l a ck b l o o d cl o tti n g prote i n; a f fects 1 in 10,000 mal e s

elizabeth-savage
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IX. Human Disorders

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  1. IX.HumanDisorders • Sex-linkeddisorders • Thesegenesarefoundon theX chromosome. • Colorblindness– 1 in 10 males; 1 in100females • Hemophilia– lack bloodclottingprotein; affects1 in • 10,000 males • Whyare sex-linked disordersmore common in males? • ChromosomalDisorders • Mostcommonarenon-disjunction • Non-disjunctionis the failureof chromosomes to separate duringmeiosis,resultingindaughtercellswithanabnormal number ofchromosomes

  2. IX.HumanDisorders • E.ChromosomalDisorderscont. • Turner’sSyndrome • FemalesmissingoneoftheXchromosomes(X0) • Sterileandveryshortbuthavenormal intelligence. • Klinefelter’sSyndrome • MaleswithanextraXchromosome • (XXY). • b)Sterileandcanhaveseveralfemale • characteristics

  3. IX.HumanDisorders • DownSyndrome • Haveextra21stchromosome • Commoninchildrenofmothersover40 • Dwarfs,mentallyretardedandusuallyhave heartproblems.

  4. X.HumanMolecular Genetics • DNAanalysis • Testing for alleles • Prospective parents can geta genetictestfor hundredsof disorders(e.g. Tay-Sachs, CF) • Scientists lookfor differences inDNAsequenceon specific genes • DNAfingerprinting • Analyzessections of DNAthat are believedto have littletono function • Highlyvariedfromhuman to human • Usedtoconvictcriminalsand freewronglyconvicted

  5. X.HumanMolecular Genetics • Amniocentesis • Involvesremovingsomefluidfromthewoman’s • womb. • Usedtoconductgenetictestsfordisordersand • diseases

  6. X.HumanMolecular Genetics • GeneTherapy • Anabsentor faulty geneis replacedby anormal, workinggene • Bodyis thenabletomakethe correctprotein, • eliminatingthedisorder • Modifiedvirusesare sometimes used toinsert the correctedgeneinto human cells • Normalhemoglobingene • Bonemarrowcell • Nucleus • Chromosomes Bonemarrow Genetically engineeredvirus

  7. XI.Genetic Engineering • TransgenicOrganismsorGMO • (geneticallymodifiedorganism) • GMOscontaingenesfromanotherspecies • Transgenicbacteria– • Reproducerapidly • Easytogrow • Produceimportantsubstancesex:humaninsulin and proteins • Transgenicplants– major part of USagriculture; weed resistance, insecticides,vitaminenriched • Transgenicanimals–growthhormones inlivestock, resistancetobacterial infections, productionofhuman proteins

  8. XI.Genetic Engineering In1996,scientistsinsertedthegeneforluciferase(enzymethatcausesfirefliestoglow)intoatobaccoplant…

  9. XI. Genetic Engineering • Cloning • Clone=individualwithgenetically identicalcellsproducedfroma singlecell • Naturalclonesareidenticaltwins • In1997,1stclonedmammal-a • sheepnamedDolly • Successfullyclonedcows,pigs, mules,cats,miceandothermammals • 1sthumancellsclonedin2001(foruseasstemcells) 44

  10. Donor Nucleus Thesetwocellsare fusedusingan electricshock. FusedCell EggCell Thenucleusof theeggcellis removed. Aneggcellis takenfroman adultfemale sheep. Embryo ClonedLamb Thefused cellbeginsdividingnormally. Theembryodevelopsnormallyintoa lamb—Dolly Theembryoisplacedintheuterusofa fostermother. Foster Mother C.Cloningprocess 45

  11. XI. Genetic Engineering D.StemCells Stemcell:anundifferentiatedcellthathasthe potentialtoturnintoanyofthe220differentcellsin thebody. 46

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