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This overview explores human genetic disorders, particularly sex-linked conditions like colorblindness and hemophilia, which affect males more frequently due to their X chromosome linkage. It highlights chromosomal disorders such as Turner’s and Klinefelter’s syndromes, and Down syndrome. Advanced genetic techniques are also discussed, including DNA analysis, amniocentesis for prenatal testing, and gene therapy to replace faulty genes. Additionally, the role of genetic engineering in creating transgenic organisms and the significance of cloning and stem cells is examined.
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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
IX.HumanDisorders • E.ChromosomalDisorderscont. • Turner’sSyndrome • FemalesmissingoneoftheXchromosomes(X0) • Sterileandveryshortbuthavenormal intelligence. • Klinefelter’sSyndrome • MaleswithanextraXchromosome • (XXY). • b)Sterileandcanhaveseveralfemale • characteristics
IX.HumanDisorders • DownSyndrome • Haveextra21stchromosome • Commoninchildrenofmothersover40 • Dwarfs,mentallyretardedandusuallyhave heartproblems.
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
X.HumanMolecular Genetics • Amniocentesis • Involvesremovingsomefluidfromthewoman’s • womb. • Usedtoconductgenetictestsfordisordersand • diseases
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
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
XI.Genetic Engineering In1996,scientistsinsertedthegeneforluciferase(enzymethatcausesfirefliestoglow)intoatobaccoplant…
XI. Genetic Engineering • Cloning • Clone=individualwithgenetically identicalcellsproducedfroma singlecell • Naturalclonesareidenticaltwins • In1997,1stclonedmammal-a • sheepnamedDolly • Successfullyclonedcows,pigs, mules,cats,miceandothermammals • 1sthumancellsclonedin2001(foruseasstemcells) 44
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
XI. Genetic Engineering D.StemCells Stemcell:anundifferentiatedcellthathasthe potentialtoturnintoanyofthe220differentcellsin thebody. 46