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Biology 221: Genetics, Development, and Evolution
I. Genetics – Two major themes: 1. Heredity – characteristics of parents are passed on to offspring. 2. Molecular genetics – inheritance based on information encoded in DNA and the molecular machinery that controls its expression and replication.
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Genetics, Development, and Evolution (continued)
II. Development – All multicellular organisms grow and develop from a single fertilized egg. How?
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Fate Map of the nematode worm Caenorhabditis elegans (C. elegans)
Adults: 1.2 mm long Made up of exactly 959 somatic cells
and form. How? 1. .Exam 1 – Slide 5 Genetics. Development. 2. Differentiation – cells divide and take on different characteristics. Morphogenesis – differentiated cells are organized into tissues and organs. and Evolution (continued) II. Development – All multicellular organisms grow and develop from a single fertilized egg. shape. and assume characteristic pattern.
Adaptation and apparent design – evident at all levels of biological organization. Evolution – Two fundamental problems of evolutionary biology: 1. and Evolution (continued) III.7 million 1 million 600.000 . Development. Species living on earth: Named and described species: Insects: Beetles: 5-100 million 1. Variation and biological diversity – incredible (and chaotic!) variety of organisms.Exam 1 – Slide 6 Genetics. 2.
Exam 1 – Slide 7 85 of the 183 species (!) of tyrant flycatchers (family Tyrannidae) of Colombia .
Variation and biological diversity – incredible (and chaotic!) variety of organisms. Solutions: 1. Adaptation and apparent design – evident at all levels of biological organization. Biological diversity evolves gradually by process of speciation. 2. . Evolution – Two fundamental problems of evolutionary biology (continued): 1.Exam 1 – Slide 8 III. 2. Adaptation and apparent design evolves gradually by process of natural selection.
regulated. and passed on to subsequent generations? 2. How is the genetic information encoded in DNA expressed.Exam 1 – Slide 9 Biology 221: The Three Big Questions 1. How does genetic information evolve over time to produce both adaptation and biological diversity? . How does genetic information orchestrate the growth and development of multicellular organisms? 3.
transcription. translation. and regulation of gene expression. 2. Molecular genetics: replication of genetic material. . Heredity: the means by which traits are passed from parents to offspring.Exam 1 – Slide 10 Two Aspects of Genetics 1.
Exam 1 – Slide 11 Origin of replication Prokaryotic cell Prokaryotic Replication chromosome: of DNA Double-stranded DNA Cell Division in Prokaryotes Elongation of cell Septation Inward growth of septum Cell pinches in two .
Exam 1 – Slide 12 Eukaryotic Cells Plasma membrane Cytoplasm Organelles Nuclear envelope Nucleus .
. Chromatin loop – looped string of solenoids.Exam 1 – Slide 13 Levels of Chromosome Organization in Eukaryotes Chromatin loop Scaffold protein Scaffold protein Solenoid DNA Rosettes of chromatin loops Chromosome Central Nucleohistone some DNA DNA double helix (duplex) Nucleosome – DNA coiled around histone proteins. Solenoid – coil of nucleosomes.
held together by a centromere. that carry equivalent genes.Exam 1 – Slide 14 Homologous Chromosomes vs. Sister Chromatids of Replicated Chromosomes Homologous chromosomes Homologous chromosomes Centromere Replication Maternal Paternal Homologous chromosomes – a pair of chromosomes. one inherited from each parent. Sister Sister chromatids chromatids Chromosomes are counted by counting centromeres . Sister chromatids – the two replicates of a duplicated chromosome.
Exam 1 – Slide 15 Karyotype of a Human Male N = 46 chromosomes • 23 homologous pairs (22 pairs of autosomes and 1 pair of sex chromosomes) .
G2 phases) Mitosis (M) S S – Complete replica of genome synthesized Cytokinesis (C) G1 G1 – Primary growth phase . S.Exam 1 – Slide 16 The Eukaryotic Cell Cycle Metaphase Prophase M – Nuclear (mitotic) division) M Anaphase Telophase C C– Cytoplasmic division G2 – Secondary growth phase G2 Interphase (G1.
Exam 1 – Slide 17 Prelude to Cell Division: Late Interphase INTERPHASE (G2) Nucleus Nucleolus Chromatin (replicated) Centrioles (replicated. animal cells only) Nuclear membrane Aster • DNA already replicated (during S phase) • Centrioles. replicate • Cell prepares for division . if present.
Exam 1 – Slide 18 Mitosis: Prophase and Metaphase MITOSIS Prophase Metaphase Condensed chromosomes Mitotic spindle Chromosomes aligned on metaphase plate Polar Mitotic spindle beginning to form Centromere and microtubules kinetochore • Nuclear membrane disintegrates. and nucleolus disappears • Chromosomes condense • Mitotic spindle begins to form and is complete at the end of prophase • Kinetochores begin to mature and attach to spindle Kinetochore microtubules • Kinetochores attach chromosomes to mitotic spindle and align them along metaphase plate at equator of cell .
Exam 1 – Slide 19 Chromosome Structure During Metaphase Kinetochore Kinetochore microtubules Chromatid Centromere region of chromosome Metaphase chromosome (two sister chromatids) .
preparing cell for cytokinesis • Chromosomes reach poles of cell • Kinetochores disappear • Polar microtubules continue to elongate. separating chromosomes to opposite poles • Polar microtubules elongate.Exam 1 – Slide 20 Mitosis: Anaphase and Telophase Anaphase MITOSIS Telophase Polar microtubules Chromosomes Nuclei reforming Polar microtubules Kinetochore microtubules • Kinetochore microtubules shorten. preparing cell for cytokinesis • Nuclear membrane re-forms • Nucleolus reappears • Chromosomes decondense .
dividing daughter cells • Animal cells: cleavage furrow forms at equator of cell and pinches inward until cell divides in two Animal Cells .Exam 1 – Slide 21 Cytokinesis CYTOKINESIS Plant Cells Cell plate Cleavage furrow • Plant cells: cell plate forms.
Exam 1 – Slide 22 Mitosis Quiz: Name That Stage! Mitosis: The TakeHome Message • Two genetically identical daughter cells are produced from a single original cell! .
the cell’s entire genome is replicated during the S phase of the cell cycle. • Mitosis orchestrates the separation of sister chromatids into independent chromosomes in two separate daughter cells. • The final step of cell division is the physical separation of the daughter cells via cytokinesis. • A replicated chromosome consists of two identical sister chromatids connected by a centromere.Exam 1 – Slide 23 Summary of Mitosis • Genetic material in Eukaryotes is organized into chromosomes composed of chromatin (DNA and its associated packaging proteins). • Cell division in Eukaryotes is accomplished through a complex process called mitosis. . • Before mitosis begins.
• Sexually reproducing organisms must therefore have a mechanism to reduce the number of chromosomes by half before forming gametes.Exam 1 – Slide 24 The Trouble With Sex Sexual reproduction – Fusion of specialized sex cells (gametes) to form a fertilized zygote which subsequently divides. and develops into an adult. grows. • Meiosis! .
Gametes are haploid – have one copy of each chromosome.Exam 1 – Slide 25 Sexual Life Cycle and Meiosis Adult body cells are diploid – have two copies (homologous pair) of each chromosome. .
• Synapsis – Homologous chromosomes pair along their length. • Homologous recombination – Genetic exchange (crossing over) occurs between homologous chromosomes during first meiotic division. . with no replication of genetic material between them.Exam 1 – Slide 26 Unique Features of Meiosis • Reduction division – Meiosis involves two successive divisions.
Crossing over. and Chiasmata Identical sister chromatids Identical sister chromatids Red= Maternal Blue = Paternal Tetrad Note: There can be multiple Chiasmata between a pair of homologous chromosomes! “Sister” chromatids are now no longer identical! Parental chromatid Parental chromatid Arrows point to regions of crossing over.Exam 1 – Slide 27 Synapsis. Note that sister chromatids cannot be resolved .
Exam 1 – Slide 28 Mitosis vs. cytokinesis occurs. Homologous chromosomes pair. each Anaphase I Telophase I containing the original number of homologues. Anaphase Telophase Two daughter cells (each 2n) Sister chromatids separate. synapsis and crossing over occur. Metaphase I Paired homologous chromosomes align at random on metaphase plate. sister chromatids remain together. Prophase Replicated homologue Prophase I Metaphase Individual homologues align on metaphase plate. and two cells result. . Meiosis I MITOSIS Paternal homologue MEIOSIS Parent cell (2n) Homologous chromosomes Maternal homologue Parent cell (2n) Chromosome replication Sister chromatids MEIOSIS I Chromosome replication Homologous chromosomes do not pair. Homologous chromosomes separate.
• Microtubules pull the homologous chromosomes apart. Mitosis Metaphase Metaphase I Meiosis I Chiasmata Anaphase I Anaphase • Microtubules pull sister chromatids apart. • Microtubules can attach to only one side of each centromere. Meiosis I • • • Homologues are not paired. but “sister” chromatids are held together. Microtubules attach to both kinetochores on opposite sides of the centromere. held together by chiasmata. • Homologs are paired. . • The kinetochores of “sister” chromatids fuse and function as one. Kinetochores of sister chromatids remain separate.Exam 1 – Slide 29 Metaphase and Anaphase: Mitosis vs.
Chromosomes are no longer purely paternal or maternal.Exam 1 – Slide 30 After Telophase of Meiosis I … … the two daughter cells are now haploid! • Daughter cells have only one copy of each pair of homologous chromosomes. they typically contain a mix of maternal and paternal genes. . 2. Each chromosome consists of two non-identical chromatids. Because of crossing over during Prophase I … Homologous chromosomes Nonidentical sister chromatids 1.
but with half the normal diploid number of chromosomes.Exam 1 – Slide 31 Metaphase II Meiosis II Anaphase II Telophase II • Meiosis II resembles normal mitotic division. • Final result – four genetically non-identical haploid cells! .
. • Outcome of a meiotic cell division: four non-identical haploid cells. • Maternal and paternal chromosomes do not stick together.Exam 1 – Slide 32 Summary of Meiosis • Only germ-line cells that give rise to haploid gametes undergo meiosis. • Daughter cells contain a mix of maternal and paternal characteristics. because of: – Crossing over and exchange of genetic material (recombination) by homologous chromosomes during Prophase I. – Independent assortment of homologous chromosomes during Anaphase I.
– Easily distinguishable traits.Exam 1 – Slide 33 Gregor Mendel and the Garden Pea Advantages of garden peas: – Many true-breeding varieties. . – Easy to grow. – Flowers can be cross-fertilized or self-fertilized. – Short generation time.
Exam 1 – Slide 34 Mendel’s Experimental Design • allowed pea plants to self-fertilize for several generations. • counted the number of offspring exhibiting particular traits. • performed crosses between varieties exhibiting alternative character forms. • permitted hybrid offspring to selffertilize for several generations. – assured pure-breeding traits. .
white is recessive! . one with white flowers and one with purple flowers: a monohybrid cross. Mendel’s conclusion: purple is dominant.Exam 1 – Slide 35 Mendel’s Experimental Results: F1 Parental Generation – Crossed two truebreeding varieties of peas. F1 Generation (first filial) – All offspring had purple flowers! – No blending inheritance.
• F2 offspring purple:white in an approximate 3:1 ratio! .Exam 1 – Slide 36 Mendel’s Experimental Results: F2 F2 Generation (second filial) – • Mendel allowed purple F1 to selffertilize.
only 1/3 of the dominant purple F2 plants were truebreeding! –2/3 produced purple: white offspring in a 3:1 ratio when self-fertilized.Exam 1 – Slide 37 Mendel’s Experimental Results: F3 • All of the recessive white F2 plants were true-breeding! –produced only white offspring when selffertilized. • However. .
Exam 1 – Slide 38 The Seven Traits Studied By Mendel All showed the same 3:1 ratio of Dominant: Recessive in the F2 Generation. .
• Each individual receives two such factors for each trait. • The two factors for a trait separate from each other when gametes form: Mendel’s Law of Segregation (or Mendel’s First Law). one from the gamete of each parent. • Presence of a particular allele does not ensure it will be expressed in a heterozygote: Mendel’s Law of Dominance.Exam 1 – Slide 39 Mendel’s Model of Heredity • Parents transmit discrete inheritance factors (genes) to offspring. • The existence of alternative forms (alleles) of these factors means that some individuals have two identical forms (homozygous) while other individuals have two different forms (heterozygous). .
heterozygous – pp .recessive allele (white) – PP .homozygous dominant – Pp .homozygous recessive Pp x Pp genotype: 1:2:1 ratio 1 PP homozygote 2 Pp heterozygotes 1 pp homozygote phenotype: 3:1 ratio of Purple:White .Exam 1 – Slide 40 Mendel’s Monohybrid Cross P F1 PP x pp genotype: all Pp heterozygotes phenotype: all Purple F1 F2 Notational convention • P .dominant allele (purple) • p .
The Testcross – cross it with a homozygous recessive! .Exam 1 – Slide 41 Mendel and the Testcross Q. How can we determine if an individual with the dominant phenotype is homozygous or heterozygous? A.
Mendel then asked: Do alleles of two different traits also segregate independently? – Mendel tested this possibility with a series of dihybrid crosses.Exam 1 – Slide 42 Independent Assortment and the Dihybrid Cross Mendel’s First Law – Alternative alleles of trait (gene) segregate independently. .
If alleles of the two traits assort independent. then F2 offspring should show phenotype ratios of 9:3:3:1. Round (R) is dominant to wrinkled (r) Yellow (Y) is dominant to green (y) .Exam 1 – Slide 43 The Dihybrid Cross and Independent Assortment Pure-breeding individuals that differ in two traits are crossed.
* * Strictly speaking. applies only when the genes affecting the two traits are located on different chromosomes. . the segregation of the pair of alleles for one trait is independent of the segregation of the pair of alleles for another trait.Exam 1 – Slide 44 Mendel’s Second Law: Independent Assortment • During gamete formation.
Exam 1 – Slide 45 Mendel’s Laws and Behavior of Chromosomes During Meiosis Mendel’s 1st Law: Law of Segregation Genotype Ss Mendel’s 2nd Law: Independent Assortment Genotype SsYy Metaphase of Meiosis I Random alignment of homologous pairs on Metaphase plate .
The Chromosomal Theory of Inheritance . Walter Sutton (1902) formally proposed the chromosomal theory of inheritance. were genes indeed located on chromosomes? Confirmed by T. researchers immediately saw parallels between Mendel’s laws of inheritance and the behavior of chromosomes during meiosis.Exam 1 – Slide 46 Following the rediscovery of Mendel’s work in 1900. H. Morgan in 1910 with demonstration of traits linked to sex chromosomes in fruit flies.
Exam 1 – Slide 47
Morgan’s Experimental Results
Red-eyed female F1 female
Progeny all red-eyed 50% red, 50% white, both males and females!
Females all red-eyed!
“What the #$%^$# is going on here?”
Males about half whiteeyed, half red-eyed!
Exam 1 – Slide 48
R = Red eye (dominant r = white eye (recessive)
Both males and females have red eyes
Males: 50% red eyes, 50% white eyes. Females: all red eyes.
Exam 1 – Slide 49
Basic Mendelian Genetics: Essential Terminology
Gene–The basic unit of heredity; a sequence of DNA nucleotides that encodes a protein or RNA molecule. Locus–Site on a chromosome occupied by a particular gene. Allele–An alternative form of a particular gene. Diploid–The condition in which two sets of chromosomes are present in an individual (or cell); typically one set is derived from an individual’s mother, the other from the father. Haploid–The condition in which only one set of chromosomes is present in an individual (or cell). Homozygote–A diploid individual that possesses two copies of the same allele at a particular gene locus. Heterozygote–A diploid individual that possesses two different alleles at a particular gene locus. Dominant–An allele that has phenotypic effects in both the heterozygous and homozygous condition. Recessive–An allele that has phenotypic effects only in the homozygous condition. Meiosis–The two successive nuclear divisions in which a single diploid cell forms four haploid nuclei and allelic segregation, crossing over, and independent assortment of homologous chromosomes occur.
Exam 1 – Slide 50
Summary of Basic Mendelian Genetics
Mendel’s Laws: 1. Law of Segregation – the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment – pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.
In many situations, one or more of these basic principles do not apply!
Males heterogametic XY! X-0 System Grasshoppers. crickets.Exam 1 – Slide 51 Chromosomal Sex Determination Systems I X-Y System Mammals. fruit flies. other insects. cockroaches. Males hemizygous X0! . other animals.
some fishes. ants. butterflies. Females heterogametic ZW! Haplo-diploid System Bees. some other animals. Males haploid and hatch from unfertilized eggs! .Exam 1 – Slide 52 Chromosomal Sex Determination Systems II Z-W System Birds. wasps.
Exam 1 – Slide 53 Sex-Linked Inheritance of Barred Plumage in Chickens .
individuals may change sex during the course of their lifetime! . alligators. some shrimp.Exam 1 – Slide 54 Environmental Sex Determination Systems Temperature-dependent sex determination Turtles. some fishes. Depending on environmental conditions. Temperature during development determines sex! Sequential hermaphroditism Many fish.
In many situations. Law of Independent Assortment – pairs of alleles for different genes segregate independently of each other. One gene (one pair of alleles) controls one trait. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. 2. 3.Exam 1 – Slide 55 Summary of Basic Mendelian Genetics Mendel’s Laws: 1. 4. Law of Segregation – the two alleles of a gene separate during gamete formation. All genes are on chromosomes in the nucleus. Other principles: 1. Only two distinct phenotypic classes for each trait (dominant and recessive). one or more of these basic principles do not apply! .
Exam 1 – Slide 56 Incomplete Dominance in Four O’clock Flowers Eggs CR CW CRCR CR CRCR CRCW Sperm CW F1 generation All CRCW C WC W CRCW F2 generation 1 2 1 CRCR CRCW C WC W C WC W 1:2:1 Red Pink White .
and MN Blood Types of Humans Two alleles in human population: LM and LN Homozygotes (Both LMLM and LNLN) produce only one type of glycoprotein on surface of red blood cells LMLN heterozygotes produce both types of glycoproteins on surface of red blood cells Blood type M Blood type MN Blood type N . N.Exam 1 – Slide 57 Codominance in M.
Exam 1 – Slide 58 Multiple Alleles in the Human ABO Blood Groups Possible alleles from female Three alleles present in human population: IA IA or IB or i IAi I Bi ii I AI B IBIB IBi IAIA or IB IAIB or i IAi Possible alleles from male IA. but completely dominant over i Blood types A AB B O . or i IA and IB are codominant with respect to each other. IB.
Exam 1 – Slide 59 Inheritance of Yellow Coat Color in Mice Parents x Yellow F1 Pure-breeding Wild Type (Agouti) Half Yellow Half Agouti .
Likely Interpretations: Yellow Coat Color Dominant to Wild Type. .Exam 1 – Slide 60 Inheritance of Yellow Coat Color in Mice Parents x Y+ F1 ++ Half Y+ Half ++ 1. P and F1 Yellow Mice are Heterozygous Y+.
Test crosses show that Yellow F2 all heterozygous! Conclusions: Y allele produces both a dominant phenotype (yellow coat) and a recessive phenotype (early embryo mortality)! .Exam 1 – Slide 61 Inheritance of Yellow Coat Color in Mice F1 x Y+ Y+ F2 2 1 2. F2 results: Yellow:Wild Type ratio 2:1 (not 3:1)! Litter size only about 3/4 normal.
Law of Segregation – the two alleles of a gene separate during gamete formation. All genes are on chromosomes in the nucleus. 3. Only two distinct phenotypic classes for each trait (dominant and recessive). Dominance: heterozygous phenotype = homozygous dominant phenotype 2. 4. One gene (one pair of alleles) controls one trait. one or more of these basic principles do not apply! . Law of Independent Assortment – pairs of alleles for different genes segregate independently of each other. In many situations.Exam 1 – Slide 62 Summary of Basic Mendelian Genetics Mendel’s Laws: 1. 2. Other principles: 1.
Exam 1 – Slide 63 Epistasis and Anthocyanin Production in Corn X White Strain A White Strain B F1 generation All purple .
Exam 1 – Slide 64 Epistasis and Anthocyanin Production in Corn Production of purple pigment anthocyanin is the result of a twostep process: Starting molecule Enzyme Coded by Gene A Eggs AB Ab aB ab X White (AAbb) White (aaBB) F1 generation All purple (AaBb) Intermediate molecule Enzyme Coded by Gene B AB AABB AABb AaBB AaBb Ab AABb AAbb AaBb Aabb Sperm aB AaBB AaBb aaBB aaBb ab AaBb Aabb aaBb aabb F2 generation 9/16 purple 7/16 white Anthocyanin .
black nose. lips. eye rims Chocolate Lab Black Lab . nose. Yellow fur. lips.Exam 1 – Slide 65 Epistasis and Coat Coloration in Labrador Retrievers Two interacting loci: E locus (pigment in fur) B locus (darkness of pigment) ee E_ No dark pigment in fur Dark pigment in fur Yellow Lab E_bb eebb eeB_ Yellow fur. nose. eye rims E_B_ Black fur. eye rims lips. lips. eye rims Brown fur. brown nose.
Law of Independent Assortment – pairs of alleles for different genes segregate independently of each other. one or more of these basic principles do not apply! . 4. 2. 3. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. One gene (one pair of alleles) controls one trait. Other principles: 1. Only two distinct phenotypic classes for each trait (dominant and recessive). All genes are on chromosomes in the nucleus.Exam 1 – Slide 66 Summary of Basic Mendelian Genetics Mendel’s Laws: 1. In many situations. Law of Segregation – the two alleles of a gene separate during gamete formation.
Exam 1 – Slide 67 Maternal-Effect Inheritance of Shell Coiling in Snails Phenotype (direction of coiling) reflects genotype (not phenotype) of mother! .
Exam 1 – Slide 68 Cytoplasmic (Maternal) Inheritance .
Dominance: heterozygous phenotype = homozygous dominant phenotype 2. 2. 3. one or more of these basic principles do not apply! . One gene (one pair of alleles) controls one trait.Exam 1 – Slide 69 Summary of Basic Mendelian Genetics Mendel’s Laws: 1. Other principles: 1. Law of Segregation – the two alleles of a gene separate during gamete formation. Only two distinct phenotypic classes for each trait (dominant and recessive). All genes are on chromosomes in the nucleus. In many situations. 4. Law of Independent Assortment – pairs of alleles for different genes segregate independently of each other.
Exam 1 – Slide 70 Dihybrid Test Cross in Drosophila Using black (b) and vestigial wings (vg): Independent Assortment? Not 1:1:1:1! .
Exam 1 – Slide 71 Linkage and Production of Recombinant Gametes by a Dihybrid Female F1 Female (Heterozygote) .
Exam 1 – Slide 72 Linkage and the Dihybrid Test Cross Parental Gametes (many) Recombinant Gametes (few) .
Exam 1 – Slide 73 Linkage and the Testcross Offspring Parental Gametes Recombinant Gametes .
Exam 1 – Slide 74 Consequences of Absence of Recombination in Male Drosophila: Complete Linkage in the Reciprocal Cross! Male Female Half Half None! None! No crossing over in male fruit flies! .
Exam 1 – Slide 75 Linkage and the Testcross Offspring Parental Gametes Recombinant Gametes .
Exam 1 – Slide 76 Relationship Between Observed and Corrected Map Distances .
072 = 7. uncoordinated 65 Which locus is in the middle? Dumpy! Uncoordinated. elegans: Dumpy.132 Total 1000 = 13.2 cM Uncoordinated 34 Dumpy.2 cM . uncoordinated. knobby 32 Map distance between D and K: (61 + 65 + 3 + 3)/1000 = 0. Dumpy. Uncoordinated. knobby 392 The rarest forms: uncoordinated-knobby and Knobby 61 dumpy. knobby 3 Dumpy 3 Map distance between D and U: (34 + 32 + 3 + 3)/1000 = 0. and Knobby P F1 +++ / +++ +++ / duk x duk / duk x duk / duk Three-point test cross! Which progeny are doubleProgeny: Wild type 410 crossovers? Dumpy.2% = 13.Exam 1 – Slide 77 Determining Gene Order with the Three-Point Test Cross Three loci in the worm C.2% = 7.
Exam 1 – Slide 78 Cystic fibrosis: autosomal recessive .
Exam 1 – Slide 79 The Royal Hemophilia Pedigree George III Edward Duke of Kent Louis I Grand Duke of HesseI Generation I Prince Albert Queen Victoria II Frederick Victoria III No hemophilia German Royal House King Edward VII Alice Duke of Hesse Alfred Helena Arthur Leopold No hemophilia Beatrice Prince Henry III King George V Irene Czar Nicholas II Czarina Earl of Princess Maurice Leopold Queen Alfonso Alexandra Athlone Alice Eugenie King of Spain ? Gonzalo IV Duke of King Windsor George VI Earl of Waldemar Prince Henry Sigismond Mountbatten Prussian Royal House ? ? ? Anastasia Alexis Viscount Alfonso Jamie Juan Tremation Russian Royal House V Queen Elizabeth II Prince Philip Margaret ? ? King Juan Carlos No evidence of hemophilia No evidence of hemophilia VI Princess Diana Prince Anne Andrew Edward Charles British Royal House VII William Henry ? Spanish Royal House Sex-linked recessive .
Exam 1 – Slide 80 Sex-linked Dominant: Hypophosphatemia .
13.35a .Exam 1 – Slide 81 Karyotype of Individual with Trisomy 21: Down Syndrome Fig.
Exam 1 – Slide 82 Incidence of Down syndrome per 1000 live births 25 20 15 10 5 0 20 Maternal Age and Incidence of Down Syndrome 25 30 35 40 45 Age of mother .
Exam 1 – Slide 83 Nondisjunction of the Sex Chromosomes Female XX Nondisjunction XX Eggs XO XXX Female Female X (Turner (Triple X syndrome) syndrome) Y OY XXY Male (Klinefelter Nonviable syndrome) O Male XY Sperm .
resulting in cancer.Exam 1 – Slide 84 Burkitt Lymphoma • Caused by translocation (swapping) of small region of chromosomes 8 and 14. Translocation of gene c-myc to chromosome 14 disrupts its normal function in regulating cell growth. .
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