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Genetic Fundamentals & Gregor Mendel Dr. Rick Woodward Chapters 9 & 10 (New/Green Text Book) 5/23/2017 1 January 12, 2011 Wednesday 5/23/2017 Today’s Agenda: -Journal Questions: Why do you think the study of genetics is important? What is your New Year’s resolution/goal? -Turn in your gene mutation winter break project. *1. Lecture: Genetics & Mendel’s Laws –Slide 36 2. Genetic Traits Activity: How alike are we? 3. Work on page 43 in packet: Heredity 4. Video: “Ghost in your genes” 5. Homework: Read Chapter 9 “Mendel Genetics” 2 (page 164 - 183: Second page of packet) The Genesis of Genetics A. Genetics was founded with the work of Gregor Johann Mendel, an Austrian monk who experimented with garden peas. 5/23/2017 3 Mendel’s Experimental Garden 5/23/2017 4 Situating Mendel Historically Mendel born 1800 (1831-1836) (1859) Darwin on Darwin’s Beagle On the Origin Voyage of Species 1815 1830 Napoleon defeated at Waterloo 5/23/2017 1845 (1866) (1892) (1910) Mendel’s Weismann’s Morgan Paper germ plasm finds white published theory fruit fly 1860 1875 1890 Crimean War (1853-1856) Formation of German Empire (1870) 1905 1920 Mendel’s Sex work re- chromodiscovered somes 5 Genetic Terminology Key Concept! A. Heredity is the transmission of characteristics from parents to offspring. B. A trait is a specific characteristic such as height or eye color. 5/23/2017 6 Genetics Terminology C. Molecular genetics is the study of the structure and function of chromosomes and genes. 5/23/2017 7 Mendel’s Observations 5/23/2017 A. Mendel observed seven characteristics in pea plants. B. He looked at contrasting traits: 1. Plant height (long or short stems) 2. Seed color (yellow or green) 3. Flower color 8 (purple or white) 5/23/2017 9 Mendel’s Observations C. Mendel studied each characteristic and its contrasting trait individually. 5/23/2017 10 Mendel’s Experiments: Crossed Pea Varieties with 7 Clearly Distinguishable Traits 5/23/2017 11 Mendel’s Observations D. He began by growing plants that were pure for each trait. (1) Plants that are pure for a trait always produce offspring for that specific “pure” trait. 5/23/2017 12 Mendel’s Observations E. The term strain denotes plants that are pure for a specific trait. F. The first strain is referred to as a parental generation, or P1 generation. 5/23/2017 13 5/23/2017 14 Mendel’s Observations G. When the plants matured, he recorded the number of each type of offspring produced by the P1 plant. (1) He called the offspring of the P1 generation the first filial generation, or F1 generation. 5/23/2017 15 F1 x F1 Punnett square F2 genotypes 1/4 SS 1/2 Ss 1/4 ss F2 phenotypes 3/4 smooth 1/4 wrinkled 5/23/2017 16 Terminology 5/23/2017 A. An allele is an alternative form of a gene. (1) Letters are used to represent alleles. (i.e. T, t) (2) Dominant Trait: TT (Tallness) (3) Recessive Trait: tt (shortness) B. Gene: a segment of DNA that contains coding for a polypeptide or protein; a unit of heredity information. 17 Terminology C. Punnett Square: Used for predicting the probability that certain traits will be inherited by offspring. (1) Punnett Square = P for Probability 5/23/2017 18 Terminology D. Homozygous: When both alleles of a pair are alike, or the same, the organism is said to be homozygous for that characteristic. AA = RED aa = BLUE 5/23/2017 19 Terminology E. Heterozygous: When the two alleles in the pair are different, the organism is heterozygous for that characteristic. Tt 5/23/2017 20 Terminology F. The genetic makeup of an organism is its genotype (1) Combination of alleles (Rr, rr, RR) 5/23/2017 21 Genotypic Ratio 1. Cross (Tt) (Tt) using a Punnett square. 2. What is the genotypic ratio? Genotypic Ratio = 1TT:2Tt:1tt 5/23/2017 22 Terminology G. Phenotype is the physical appearance or expression of the genotype. (Flower Color) (1) Flower Color is the physical appearance/phenotype. 5/23/2017 23 Phenotypic Ratio 1. What is the phenotypic ratio of a cross between (Tt)(Tt)? Use a Punnett Square to assist you. 2. The phenotypic ratio is 3 Tall: 1 Short 5/23/2017 24 Ratios F1 x F1 crosses: Mendel also discovered that traits that disappear in the F1 generation reappear in the F2 generation in a 1:3 ratio. 5/23/2017 25 Hybrids A. A hybrid is….. B. A monohybrid cross is a cross between individuals that involves one pair of contrasting traits (TT)(tt) C. A Dihybrid cross is a cross between individuals that involve two pairs of contrasting traits. (BBSS) (ssbb) 5/23/2017 26 Dihybrid cross: F1 generation 5/23/2017 27 Dihybrid cross: F2 generation Ratio: 9:3:3:1 5/23/2017 28 Hybrid Cross 5/23/2017 29 Dominant versus Recessive Traits 5/23/2017 30 Recessive Traits versus Dominant Traits A. Recessive Trait: Referring to an allele that is masked by the presence of another allele for the same characteristic. (1) Example: T = Tall t = Short tt = Short (recessive trait) 5/23/2017 31 Recessive Traits versus Dominant Traits 5/23/2017 32 Recessive Traits versus Dominant Traits B. Dominant Trait: The dominant trait dominants over a recessive trait unless the recessive trait is homozygous tt = shortness. (1) Example: T = Tall t = Short TT = Tall (Dominant Trait) Tt = Tall (Dominant Trait) 5/23/2017 33 5/23/2017 34 Epigenetics A. May control the expression of our genes. B. Involves the modifications of the activation of certain genes, but not the basic structure of DNA C. Possible Epignetic Processes: 1. Gene silencing 2. Chromosome inactivation 5/23/2017 35 5/23/2017 36 Today’s Activity: HOW ALIKE ARE OUR ALLELES? 5/23/2017 Find out the alleles you have for different traits For each trait, write down whether you express that trait and whether you are dominant or recessive. 37 1. TONGUE ROLLING DOMINANT Trait: The ability to roll up the sides of the tongue (RR, Rr) RECESSIVE Trait: Not being able to roll up the sides of the tongue (rr) 5/23/2017 38 2. 2nd TOE LENGTH DOMINANT Trait: 2nd toe is longer than the big toe (BB, Bb) RECESSIVE Trait: 2nd toe is shorter than the big toe (bb) -note the presence of a toe ring. 5/23/2017 39 3. WIDOW’S PEAK 5/23/2017 DOMINANT Trait: Hairline has a point, widow’s peak is present (WW, Ww) RECESSIVE Trait: Hairline has no point, no widow’s peak (ww) 40 4. ATTACHED/FREE EARLOBES 5/23/2017 DOMINANT Trait: Earlobes hang freely from the ear (EE, Ee) RECESSIVE Trait: Earlobes are attached to the side of the face (ee) 41 5. HITCHHIKER’S THUMB 5/23/2017 DOMINANT Trait: Thumb is straight slightly angled (HH, Hh) RECESSIVE Trait: Thumb can be bent backwards (hh) 42 6. HAIRY KNUCKLES 5/23/2017 DOMINANT Trait: No hair on middle parts of fingers (HH, Hh) RECESSIVE Trait: Hair is present on middle parts of fingers (hh) 43 7. DIMPLES 5/23/2017 DOMINANT Trait: Dimples present (DD, Dd) RECESSIVE Trait: No dimples (dd) 44 8. CLEFT CHIN 5/23/2017 DOMINANT Trait: No cleft present in the chin (CC, Cc) RECESSIVE Trait: Chin has a cleft or indentation (cc) 45 9. STRAIGHT/BENT PINKIES DOMINANT Trait: Pinkies are straight (SS, Ss) RECESSIVE Trait: Pinkies are bent (ss) 5/23/2017 46 10. HANDEDNESS 5/23/2017 DOMINANT Trait: Right-handed (HH, Hh) RECESSIVE Trait: Left-handed (hh) 47 Handedness & The Brain 5/23/2017 48 January 13, 2011: Thursday Today’s Agenda: -Journal Question: What is the difference between a genotype and a phenotype? -What is epigenetics? *(1) Lecture on Mendel’s Laws (finishing unit) –slide 85 (2) Start Face Lab (last pages of your packet.) (3) HW: Finish pages 44, 46, 48 in your packet. (4) Study guide given out next class. -Bring flash cards if you need them. (5) Exam next week on Mendel & Genetics -All work is due on the day of the exam 5/23/2017 49 Mendel’s Laws & Other Key Concepts 1. Mendel’s Law of Segregation 2. Mendel’s Law of Independent Assortment 3. Mendel’s Law of Dominance 4. Mendel’s Law of Incomplete Dominance Other Key Concepts: 1. Blood Types 2. Homologous Chromosomes 3. Crossing Over 4. Sex-Linked Traits (pedigree chart) 5. DNA versus RNA 5/23/2017 50 Mendel’s Law of Segregation A. Law of Segregation states that a pair of factors (alleles) is segregated, or separated, during the formation of gametes (reproductive cells) (1) When two gametes combine during fertilization, the offspring have two factors controlling a specific trait (Gg) 5/23/2017 51 5/23/2017 52 Law of Segregation and Recombination A. Each trait is transmitted as an unchanging unit, independent of other traits, thereby giving the recessive traits a chance to recombine and show their presence in some of the offspring. 5/23/2017 53 Mendel’s Law of Independent Assortment 1. Traits are not inherited together. 2. In forming the gametes, the “Factors” for any two traits assort independently from one another 3. This became known as Mendel’s second principle: Independent Assortment 5/23/2017 54 Independent Assortment 5/23/2017 55 Mendel’s Law of Dominance C. Law of Dominance 1. Of two contrasting characteristics, the dominant one may completely mask the appearance of the recessive one. 5/23/2017 56 Mendel’s Law of Incomplete Dominance D. Incomplete Dominance 1. Pattern of inheritance in which neither allele is dominant 2. Three totally different phenotypes can occur. 5/23/2017 57 Incomplete Dominance 5/23/2017 58 Mendel’s Law of Co-dominance E. Incomplete dominance is also called Co-dominance 1. Co-dominance occurs when one allele is not dominant. 2. Both alleles are expressed equally. 5/23/2017 59 Co-Dominance: Blood Types 5/23/2017 60 What are Blood Types? Everybody has a blood type. The most common blood type classification system is the ABO (say "AB-O") system discovered by Karl Landsteiner in the early 1900s. There are four types of blood in the ABO system: A, B, AB, and O. Your blood type is established before you are born, by specific genes inherited from your parents. You receive one gene from your mother and one from your father; these two combine to establish your blood type. These two genes determine your blood type by causing proteins called agglutinogens (a-GLOO-tin-a-gins) to exist on the surface of all of your red blood cells. 5/23/2017 61 Blood Types 5/23/2017 62 Blood Types 5/23/2017 63 What is the most common blood type? Answer: Type O Positive Everyone can accept type O blood. 5/23/2017 64 Blood Types 5/23/2017 65 Blood Types 5/23/2017 66 Homologous Chromosomes A. Two copies of each autosome are called homologous chromosomes. (1) They are the same size, shape, and carry genes for the same traits. 5/23/2017 67 Homologous Chromosomes 5/23/2017 68 Homologous Chromosomes B. Homologous pairs of chromosomes segregate during meiosis. 5/23/2017 69 Crossing Over A. Portions of chromatids may break off and attach to adjacent chromatids on the homologous chromosome = a process called crossing over. 5/23/2017 70 Sex-Linked Traits 5/23/2017 A. Sex-linkage is the presence of a gene on a sex-chromosome. B. Sex Chromosomes: XX = Female XY = Male C. X-Linked Traits: (1) Colorblindness (2) Hemophilia (3) Duchenne Muscular Dystrophy 71 Sex-Linked Traits 5/23/2017 72 Pedigree A. A pedigree is a family record that shows how a trait is inherited over several generations. 5/23/2017 73 Review: DNA vs. RNA DNA 1. Location: Nucleus 2. Function: Directs activities of the cell 3. Nitrogen Bases: ATCG 4. Structure: Double Helix 5/23/2017 RNA Ribosome Protein Synthesis AUCG Single Strand 74 Genetic Testing Kits for the Public A. Genetic Testing kits are available to check your DNA for possible anomalies. 5/23/2017 75 Parts of a Nucleotide 5/23/2017 76 Nitrogen – Base Pairing A bonds with T: C bonds with G 5/23/2017 AT CG 77 Karyotype A picture of an Individual’s Chromosomes 5/23/2017 78 Polyploidy A. When organisms contain some multiple of the normal number of chromosomes, they are called polyploid organisms. 5/23/2017 79 5/23/2017 80 5/23/2017 81 y 5/23/2017 82 Recombinant DNA Technology 5/23/2017 83 Face Lab (January 18, 2011) - Journal Question: What genetic traits do you think that you get from your parents? (Name/Identify 2 traits) 1. Find a friend to perform today’s lab with. 2. Lab: Data Table & Diagram Your Results. (Last pages of your packet) -Diagram your offspring as a teenager. (use color pencils) 3. Write a brief biography of your teen. 4. Homework: Finish your packet & Face Lab Portrait 5/23/2017 84 Today’s Lab Find a partner to work with and perform the face lab on human genetics. Materials: 1. Coin (Heads = Dominant. Tails = Recessive) 2. Lab 3. Color Pencils and paper to diagram face. 5/23/2017 85 Today’s Lab 1. Each of you must diagram a portrait of your child as a teenager. 2. Name your child 3. On the back of your portrait write a brief life history of your child. 5/23/2017 86 Today’s Agenda January 20, 2011 Journal Questions: -How do the nitrogen bases pair up in DNA? -What are the three parts of a nucleotide? *1. Brief Lecture: DNA Replication 2. Complete Face Lab –Draw your teen and write a brief biography. 3. Work on Study Guide for Exam VI 4. Exam on Monday (Jan. 24, 2011) 5/23/2017 87 DNA Replication A. The process of copying DNA in a cell is called replication. (1) During replication, the two nucleotide chains separate by unwinding, and each chain serves as a template for a new nucleotide chain. 5/23/2017 88 DNA Replication 5/23/2017 89 Steps of DNA Replication 5/23/2017 (1) Separation of two nucleotide chains. a. Point of separation = Replication fork (2) Chains are separated by enzymes called helicases. (3) Helicase enzymes move along the DNA molecule, they break the hydrogen bonds between the complementary bases, and the chains separate. 90 Steps of DNA Replication (4) DNA Polymerases bind to the separated chains of DNA. 5/23/2017 91 Steps of DNA Replication (5) As DNA Polymerases move along the separated chains, new chains of DNA are assembled using nucleotides that are complementary to the existing DNA chains. 5/23/2017 92 Steps of DNA Replication (6) The complementary nature of the two chains of DNA is the foundation for accurate DNA replication. -Nitrogen Base Pairing Rules: A–T C–G GATTACA CTAATGT (Complementary Strand) 5/23/2017 93 DNA Replication When DNA replication is completed, (1) Two new exact copies of the original DNA molecule are produced (2) The cell is now ready to undergo cell division (P.M.A.T). 5/23/2017 94 Next Topics for the End of the Semester: January 27, 2011 (Thursday) 1. Gene Mutations 2. DNA Replication 3. Recombinant DNA Technology 4. Protein Synthesis -Comprehensive final exam with emphasis on genetics, the cell, organelles and their functions. 5/23/2017 95