Lecture 8: Genetics and Heritable DiseasePowerPoint PresentationSlide 3Slide 4Slide 5Slide 6Slide 7Slide 8Slide 9Slide 10Slide 11Human Embryos Cloned for Stem CellsHow did they do it?What’s an ES cell good for?Key TermsEthical QuestionsSlide 17Slide 18Slide 19Slide 201- Scientific Imperialism2- Postmodern Relativism3- GodismsLecture OutlineGenesHomologous ChromosomesAllelesSex ChromosomesKaryotype Preparation - Stopping the CycleKaryotype PreparationHuman KaryotypeSex DeterminationThe Y ChromosomeEffect of Y ChromosomeThe X ChromosomeDiscovering LinkageDiscovering LinkageSlide 38Linkage GroupsFull LinkageIncomplete LinkageCrossover FrequencyLinkage Mapping in HumansPedigreePedigree for PolydactlyGenetic AbnormalityGenetic DisorderAutosomal Recessive Inheritance PatternsGalactosemiaAutosomal Dominant InheritanceHuntington DisorderAcondroplasiaX-Linked Recessive InheritanceExamples of X-Linked TraitsFragile X SyndromeHutchinson-Guilford ProgeriaDuplicationSlide 58InversionTranslocationSlide 61DeletionAneuploidyPolyploidyNondisjunctionDown SyndromeTurner SyndromeKlinefelter SyndromeXYY ConditionPhenotypic TreatmentsGenetic ScreeningPrenatal DiagnosisPreimplantation DiagnosisChromosomes & CancerPhiladelphia ChromosomeSickle Cell AnemiaInheritance of a Molecular DiseaseHemoglobin and Sickle Cell AnemiaSticky SituationCell SicklingHow Was the Mutation Selected?A Reciprocal TranslocationAn Altered GeneUnderstanding ChromosomesSlide 85Lecture 8: Geneticsand Heritable DiseaseObjectives:Understand the basis of genetic inheritanceUnderstand the basis of genetic variationRelate meiosis, to sex and haploid cellsUnderstand chromosome structure and how it affects general healthExplain how small changes in DNA information result metabolic changesKey Terms: Gene, Chromosome, Allele, Locus, loci, Mutation, Diploid and haploid, Phenotype and genotype, Homologous vs. heterozygous, Meiosis vs. Mitosis, Karyotype, X and Y chromosome, Sex determination, Linkage, linkage groups, Full and incomplete linkage, Genetic Markers, Crossover (Recombination), Pedigree, Autosomal and sex-linked, Recessive vs. Dominant, Duplication, Inversion and Translocation, Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Prisoners Syndrome.Chapter 11 for backgroundPublished online February 12, 2004 Evidence of a Pluripotent Human Embryonic Stem Cell Line Derived from a Cloned Blastocyst Woo Suk Hwang et al. 1 College of Veterinary Medicine, Seoul National University, Seoul 151-742, Korea; Somatic cell nuclear transfer (SCNT) technology has recently been used to generate animals with a common genetic composition. In this study, we report the derivation of a pluripotent embryonic stem cell line (SCNT-hES-1) from a cloned human blastocyst. SCNT-hES-1 cells display typical ES cell morphology and cell surface markers and are capable of differentiating into embryoid bodies in vitro and of forming teratomas in vivo containing cell derivatives from all three embryonic germ layers in SCID mice. After continuous proliferation for >70 passages, SCNT-hES-1 cells maintain normal karyotypes and are genetically identical to the somatic nuclear donor cells. Although we cannot completely exclude the possibility of a parthenogenetic origin of the cells, imprinting analyses provide support that the derived human ES cells have a somatic cell nuclear transfer origin.Fig. 10.8, p. 158Nucleus of a diploid (2n)Reproductive cell with two pairs of homologouschromosomesORPossible alignmentsof the two homologouschromosomes duringmetaphase I of meiosisThe resulting alignments at metaphase II:allelic combinationspossible in gametes:1/4 AB 1/4 ab 1/4 Ab 1/4 aBA A A AA A A AAAAAB BB BBBB BBBBBa a a aaa aaaaaabb b bbb b bb b b bSertoli cellspermatogonium (diploid)primary spermatocyteMITOSIS MEIOSIS I MEIOSIS IIpart of the lumen of a seminiferous tubuleimmature sperm (haploid)late spermatidsecondary spermatocyte early spermatidshead (DNA in enzyme-rich cap)midpiece with mitochondriatail (with core of microtubules)Fig. 39.14, p. 659Fig. 39.17b, p. 662first polar bodysecondary oocyteantrumprimordial follicleOvulation.Mature follicle ruptures and releases the secondary oocyte and the first polar body.A primordial follicle; meiosis I has been arrested in the primary oocyte inside it.A corpus luteum forms from remnants of the ruptured follicle.When no pregnancy occurs, the corpus luteum degenerates.zona pellucidafollicle cellgranules in cortex of cytoplasmnuclei fuseFERTILIZATIONOVULATIONoviductovaryuterusopening of cervixvaginasperm enter vaginaFig. 39.20, p. 665uterusovaryoviductendometriumIMPLANTATIONFERTILIZATIONinner cell mass(see next slide)Fig. 39.21a, p. 666Fig. 39.21b, p. 667endometriumuterine cavityblastocoelTrophoblast (surface layer of cells of the blastoyst)inner cell massstart of amniotic cavitystart of embryonic diskstart of yolk sacblood-filled spacesstart of chorionic cavityDAYS 6-7 DAYS 10-11DAY 14 DAY 12yolk sacchorionic cavitychorionic villichorionamniotic cavityconnecting stalkFig. 39.25, p. 672Fig. 39.7, p. 652Blastula Cell migrations in early gastrulaa Dorsal lip is excised from donor embryo, then grafted to an abnormal site in another embryo.b Graft induces a second invagination.c Gastrula develops into a double embryo. Most of its tissues originated from the host embryo.Fig. 39.10, p. 654Human Embryos Cloned forHuman Embryos Cloned for Stem Cells Stem CellsIn work that observers call both remarkable and In work that observers call both remarkable and inevitable, scientists in Korea have produced an inevitable, scientists in Korea have produced an embryonic stem (ES) cell line from cloned human cellsembryonic stem (ES) cell line from cloned human cellsThis advance holds promise for replacing cells This advance holds promise for replacing cells damaged by diseases such as Parkinson's and damaged by diseases such as Parkinson's and diabetes. diabetes. In doing so, the team has apparently overcome some In doing so, the team has apparently overcome some of the obstacles that to date have hampered human of the obstacles that to date have hampered human cloning, cloning, This work is likely to reignite the smoldering This work is likely to reignite the smoldering debate over how such research should be debate over how such research should be regulated.regulated.How did they do it?How did they do it?The secret to their success may be the gentle way in which The secret to their success may be the gentle way in which they removed the
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