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Chapter 11: Genetics When told to, put the PTC paper on your tongue PTC, or phenylthiourea, is an organic compound having the unusual property of either tasting very bitter, or being virtually tasteless, depending on the genetic makeup of the taster. • The ability to taste PTC is a dominant genetic trait. T = Taster t = non-taster – If you can taste, you are either TT or Tt. – Those who can not taste are tt • About 70% of people can taste PTC, varying from a low of 58% for Aborginal people of Australia to 98% for Native Americans • Ever wonder why people resemble their parents &/or siblings? • How do farmers select the best plants or animals for breeding purposes? • How’d you like that PTC paper? • Why did some people in your class/family taste it and others didn’t? Genetics • Studies the transmission of traits or characteristics from 1 generation to the next Gregor Mendel (1822 – 1884) The Father of Genetics • Central European monk (Now the Czech Republic) discovered the basic underlying principles of heredity. • Work completed in 1865 • His work did not get recognized though until 1900 (he was dead by then). • He used pea plants and selectively crossed them over many generations • Saw that certain traits show up in offspring plants without any blending of parent characteristics. X Why all purple? Mendel's work 1. Removed the stamen/anther (male parts) to prevent selfpollination 2. Used the stamen from a tall plant and pollinated only flowers from other tall plants 3. Observed generations for 2 years to be certain of purebreds Tall X Tall Short X Short Yielded all Talls Yielded all shorts • Crossed plants with contrasting traits Tall X Short Short X Tall • P = Parental generation • F1 = 1st Filial generation (offspring) • F2 = 2nd Filial generation (next set of offspring off the F1) • P1: Pure Tall X Pure Short T = Tall stems t = short stems TT X tt • F1: Tall (Tt) Only one trait showed • F1 cross: F1 Tall X F1 Tall Tt Tt • F2: 3 Tall 1 Short TT Tt Tt tt • The “lost” trait reappears! • To get these results for the F2, do FOIL – (firsts, outers, inners, lasts) • *******Always got 75% Tall and 25% short or 3:1 whenever this type of cross occurred. Mendel’s 4 conclusions (hypotheses) from his experiments 1. Concept of Unit Characters: The inheritance of each trait is determined by “units” or “factors” that are passed on. • We now know these “units” as GENES • These “units” occur in pairs. One from each parent 2. Law of Dominance: – One factor “masks” the appearance of another factor. It prevents it from showing • Dominant – trait that must show if present (TT or Tt) • Recessive – trait that will only show if in the pure form (tt) • Hybrid – Contains a dominant & a recessive trait (Tt) • Allele – alternate genes for a given trait (Tall allele or short allele) 3. Law of Segregation • For any trait, pairs of alleles are separated in forming the gametes (during Anaphase I of meiosis). • Only 1 gene (allele) from the pair goes into the gamete during meiosis. More genetic vocabulary to learn • Genotype: Shows actual genetic makeup. (Use symbols for genes) – TT or Pure dominant or homozygous dominant – Tt or Hybrid or heterozygous – tt or Pure recessive or homozygous recessive Homozygous vs Heterozygous: Pure vs Hybrid (mixed) • Phenotype: – Tells appearance (describes the trait) Tall (if TT or Tt) Short (if tt) – NO HYBRIDS HERE!! – Describe what they look like – For Eye color: – Blue – Green – Brown – For Hair color; Red, Blond or Brown Widows peak Dimples Mid – digit hair Free earlobe Hitchhikers thumb Chin Dimple 2nd toe larger than 1st Straight pinkie finger Punnett Squares • Shows possible gene pairing & probability of each pairing. • Checkerboard method • Foiling • During meiosis, when the gametes are formed, the genes of the father and mother separate from each other. This is the law of segregation. genes of 1 parent T T genes of 1 parent t Tt Tt t Tt Tt Phenotype ratio : 100% tall Genotype ratio : 100% Tt (hybrid) Possible crosses • Do the crosses (Punnett Sqs) & determine the : • Phenotype and Genotype ratios • Trait: T = Tall stem length • t = short stem length • 1. TT x TT • 2. TT x Tt • 3. TT x tt • 4. Tt x Tt • 5. Tt x tt • 6. tt x tt TT X TT TT X Tt TT X tt Tt x Tt Tt x tt tt x tt 1. In humans, having a chin dimple is dominant to not having dimples. a.Show the cross of two parents who are both hybrid for having dimples. b.Give the expected Phenotype ratio and genotype ratio for this cross. ____ = Dimple gene ____ = Non dimple gene Parent cross ______ x ______ Phenotype ratio : Genotype ratio : 2. For the same trait, cross a hybrid with an individual who does not have dimples Parent cross ______ x ______ Phenotype ratio : Genotype ratio : Probability • Likelihood of an event occurring • Shown by Punnett Square • Shows how often a gene pairing may occur. **Need large numbers to get accurate predictions** Coin Toss Lab: Flip one coin 10x. Keep track of the # of Heads and Tails you get. 50:50 chance of getting heads or tail if you toss one coin What happens when you toss two coins? • If you toss 2 coins 100 times, you should get: • 25 Heads/Heads • 50 Heads/Tails • 25 Tails/Tails • As the # of trials increases, the ratios predicted by the laws of probability get closer • Actual outcomes get closer to calculated predictions A/A 1 2 5/6 3 4 5 6 7 8 9 10 Total/1000 Genotype Ratio Phenotype Ratio A/a a/a A Offspring Phenotype Offspring Genotype Yellow AA Aa Green aa Total Total Total 10 Tosses 100 Tosses 1000 Tosses Total Number of Yellow seeds (AA + Aa) B Expected Genotypic Ratio C Expected Phenotypic Ratio D Experimental Genotype Ratio E Experimental Phenotype Ratio A/A 1 2 7/8 3 4 5 6 7 8 9 10 Total/1000 Genotype Ratio Phenotype Ratio A/a a/a A Offspring Phenotype Offspring Genotype Yellow AA Aa Green aa Total Total Total 10 Tosses 100 Tosses 1000 Tosses Total Number of Yellow seeds (AA + Aa) B Expected Genotypic Ratio C Expected Phenotypic Ratio D Experimental Genotype Ratio E Experimental Phenotype Ratio A/A 1 2 9 3 4 5 6 7 8 9 10 Total/1000 Genotype Ratio Phenotype Ratio A/a a/a A Offspring Phenotype Offspring Genotype Yellow AA Aa Green aa Total Total Total 10 Tosses 100 Tosses 1000 Tosses Total Number of Yellow seeds (AA + Aa) B Expected Genotypic Ratio C Expected Phenotypic Ratio D Experimental Genotype Ratio E Experimental Phenotype Ratio A Offspring Phenotype Offspring Genotype Yellow AA Aa Green aa Total Total Total 10 Tosses 100 Tosses 1000 Tosses Total Number of Yellow seeds (AA + Aa) B Expected Genotypic Ratio C Expected Phenotypic Ratio D Experimental Genotype Ratio E Experimental Phenotype Ratio A/A 1 2 7/8 3 4 5 6 7 8 9 10 Total/1000 Genotype Ratio Phenotype Ratio A/a a/a So you are a right handed person. How do you know if you are pure or a hybrid for the right handed trait? Could you ever have a lefty child? • Test Cross: • Method used to find out if something (or someone) is pure dominant or a hybrid for a given trait. • Cross them with a pure recessive for that trait. If the results come up with a recessive individual, then the parent was a hybrid Is your black guinea pig pure for its coat color? In Guinea pigs: B = Black coat b = white coat Cross the (BB) guinea pig with a pure recessive (bb) Cross the (Bb) guinea pig with a pure recessive (bb) If: BB x bb If: Bb x bb If any of the offspring are white coated, then we knew the black guinea pig was BB Monohybrid crosses: • Cross two hybrids. Bb x Bb Tt x Tt Rr x Rr • Always get a 3:1 phenotypic ratio!!! Genetic Corn lab • Cover page must be present with a COLOR graphic and the names of all the people in the group along with the date. • Formal Lab write-up so typed & in a specific order – Purpose: What are we trying to determine from our corn plants? • The purpose of this experiment with genetic corn seeds is to determine the Phenotype and Genotype of the parent corn plants from observations of the offspring – Procedure: Explain clearly what we did to set up the lab and how we take care of the plants and collect our data – Data Tables: 2 tables, one for your group only and the other one for the class data – Calculations/Analysis: Determine the F1 Phenotype ratios for your group and the entire class or 2 classes together. Show all your work and calculations. – Questions: You will answer the 10 questions thoroughly and in complete sentences with the question incorporated into the answer Calculations for Genetic Corn Lab Calculations: Determine the F1 Phenotype ratios of your data and the class data. To determine this, divide the # of each color plant by the # of albino plants If you obtained 7 green and 5 white: 7:5 or 1.4:1 Analysis Questions Questions: You are to answer these questions thoroughly and in complete sentences 1. Could you tell before the seeds germinated which would have the green pigment and which would be albino? Explain 2. What are the three requirements for seeds to germinate? 3. Which plants after 1 week were larger? 4. Why do you think the above was so? 5. Why do the seeds with albino traits die before the green plants? 6. Use the results shown in your data tables and your calculations to determine the genotypes and phenotypes of the parents. These are not ratios!! 7. Show the genetic cross of the parents using a Punnett Square with a key to your two alleles for pigmentation 8. Using the Punnett Square from question #7, determine the F1 genotypic ratio and phenotypic ratio and percentages. 9. If we wanted more accurate results, what could be done to bring the results closer to the expected phenotype ratios? 10. Why couldn’t one of the parents be pure recessive for chlorophyll production? Table #2 – Class Results Group # # of Green Plants # of White Plants # of Plants counted A 21 9 30 B 9 3 12 C 9 2 11 D 9 1 10 E 11 1 12 F 8 4 12 G 7 5 12 H 8 2 10 I 8 3 11 90 30 120 J Other Class Data TOTALS % Green Plants % White Plants Table #2 – Class Results Group # A B C D E F G H I J Other Class Data TOTALS # of Green Plants # of White Plants # of Plants counted % Green Plants % White Plants What are your chances of having a blue eyed, blond haired child if one of your parents is brown haired and eyed and the other is a blond with blue eyes? 4. Law of Independent Assortment • Different pairs of alleles are passed to offspring independent of each other. B = Brown b = White S = Short tail s = Long tail Dihybrid crosses • Crossing two hybrids, that are hybrid for two different traits • T = Tall stem Y = Yellow seed • t = short stem y = green seed • TtYy x TtYy • Dihybrid cross • Phenotype ratio for a dihybrid is always: – 9:3:3:1 = (3:1)(3:1) 9 – Tall Yellow 3 – Tall green 3 – Short yellow 1 – Short green • Trihybrid would be: 27:9:9:3:9:3:3:1 (3:1)(3:1)(3:1) F1: TtYy x TtYy Foil each parent to get gamete combinations TY Ty tY ty TY Ty ____ = Tall Yellow ____ = Tall green tY ____ = short Yellow ____ = short green ty 1. A normal toed, hybrid, dark haired person mates with a hybrid for webbed toes and has light hair. What could be the phenotypes of their children? Parent Cross _________x _______ _____ = Webbed toes _____ = Normal toes _____ = Dark hair _____ = Light hair 2. Cross an individual who is heterozygous for both curly hair and freckles with a homozygous curly haired, non-freckled person. What will be the possible phenotypes of this cross. Parent Cross _________x _______ _____ = Curly hair _____ = Straight hair _____ = Freckles _____ = No freckles In fruit flies, red eyes are dominant to sepia eyes and having normal wings is dominant to vestigial wings. Cross a dihybrids for eye and wings ____ = Red eyes ___ = Normal wings ____ = Sepia eyes ___ = Vestigial wings 4. Law of Independent Assortment • Different pairs of alleles are passed to offspring independent of each other. B = Brown b = White S = Short tail s = Long tail F1 Cross: Cross 2 plants from the F1 generation RrYy x RrYy Now FOIL RrYy to figure out the possible gametes for each parent plant RrYy RY Ry rY ry RY RY RY RY ry RrYy RrYy RrYy RrYy ry RrYy RrYy RrYy RrYy ry RrYy RrYy RrYy RrYy ry RrYy RrYy RrYy RrYy Phenotype ratio = 100% Round/Yellow Genotype ratio = 100% RrYy RY Ry rY ry RY RRYY RRYy RrYY RrYy Ry RRYy RRyy RrYy Rryy rY RrYY RrYy rrYY rrYy ry RrYy Rryy rrYy rryy Phenotype ratio: Round/Yellow Round/Green Wrinkled/ Yellow Wrinkled/Green = = = = 9/16 3/16 3/16 1/16 P = Purple stem P = Green stem G = Green leaves g = yellow leaves 1. A normal toed, hybrid dark haired person mates with a hybrid for webbed toes and has light hair. What could be the phenotypes of their children? Parent Cross _________x _______ _____ = Webbed toes _____ = Normal toes _____ = Dark hair _____ = Light hair 2. Cross an individual who is heterozygous for both curly hair and freckles with a homozygous curly haired, non-freckled person. What will be the possible phenotypes of this cross. Parent Cross _________x _______ _____ = Curly hair _____ = Straight hair _____ = Freckles _____ = No freckles In rabbits, grey hair is dominant to white hair and black eyes are dominant to red eyes. _____ Grey hair _____ Black eyes _____ White hair _____ Red eyes 1. What are the phenotypes of rabbits that have the following genotypes? a. ggBb __________________________________________________________________ b. Ggbb __________________________________________________________________ 1. A male rabbit is a hybrid for grey hair & is pure for black eyes mates with a female rabbit that is a hybrid for both grey hair and black eyes. Fill in the Punnett square below and then answer the following questions: Parent cross: ______________ x _________________ a. b. c. d. What is the likelihood of one of the offspring having grey hair and black eyes? ___________ What is the likelihood of an offspring being grey hair and red eyes? ___________ How about the likelihood of one having white hair and black eyes? __________ Now what about white hair and red eyes? ___________ 2. A male rabbit is a homozygous for grey hair & is hybrid for black eyes mates with a female rabbit that is a hybrid for both grey hair and black eyes. Fill in the Punnett square below and then answer the following questions: Parent Cross: _______________ x ____________ a. b. c. d. What is the likelihood of one of the offspring having grey hair and black eyes? ___________ What is the likelihood of an offspring being grey hair and red eyes? __________ How about the likelihood of one having white hair and black eyes __________ Now what about white hair and red eyes? ___________ Dihybrid cross lab • In corn: R = Rough Seed shape r = smooth seeds Y = Yellow seed color y = white seed color If P: RRYY x rryy RY ry F1: RrYy We will do the F1 cross of RrYy x RrYy Foil RrYy to get the possible gamete combinations from each parent and then do theDataPunnett Square Table 1 Female gametes RY RY Ry Male gametes rY ry Ry rY ry From the F1 cross Punnett Square, fill in Data Table 2 Data Table 2 Genotype RRYY RrYY RrYy RRYy RRyy Rryy rrYY rrYy rryy Genotype ratio (X:16) X:16 Phenotype Phenotype ratio On Data Table 3, using Data Table 2, fill in the Expected ratios for 16 offspring and then multiply those by 3 to get the Expected ratio out of 48 offspring Now flip 4 labeled coins, 48 times and record on Data table 3. Data Table 3 Phenotypes Genotypes Rough, yellow seeds RRYY RrYy RRYy RrYY Rough, white seeds RRyy Rryy Smooth, yellow seeds rrYY rrYy Smooth, white seeds rryy Number of Expected for 16 Offspring Number Expected for 48 Offspring Toss Results Total Number Observed Coins F1: RrYy R x Y RrYy R Y r R y X r y Gene Expressions in Humans: Chapter 11 Incomplete Dominance • Blending • Cross Red carnations with White carnations. • You would expect to get Red carnations. • WRONG!!! • All will be Pink carnations. How did this happen? P1: Red carnations (rr) • F1: F1: Pink carnation (rw) x White carnations (ww) Pink carnations (rw) F2: 25% Red (rr) x Pink carnation (rw) 50% Pink (rw) 25% White (ww) 1:2:1 phenotype ratio!! 1:2:1 genotype ratio!! rr rw ww Incomplete Dominance Hair color Eye color Height Face shape Wavy hair Pitch of male’s voice (tt – tenor, tb baritones, bb – low bass) Tay-Sachs Disease • Inability to produce the enzyme that breaks down • • • lipids Causes fluid pressure on brain then breakdown of brain. Starts a ~ 6 months w/ death by 2 – 3 years. Most common among the descendents of Eastern European Jews (Ashkenazi Jews). Tt individuals produce 40-60% of enzyme Crosses: 1. Cross a Round faced person with an square faced person 2. Cross a Black with a white horse 3. Cross a Wavy haired person with a curly haired person Codominance • • • • Condition in which both alleles of a gene are expressed or active Roan cattle or horses: Red is codominant with white. Results in a Cattle or horse with some red and some white hair. (they look pink from a distance) Also a blue roan (black & white hairs) Andalusian chickens – have both black and white feathers. Roans Blood types in humans A is codominant with B resulting in AB blood Animation Sickle Cell Anemia • Sickle Cell anemia gene is codominant to the normal red blood cell gene. Caused by a point mutation • Normal red blood cells are round like doughnuts, move easily through small blood vessels to deliver oxygen. • Sickle red blood cells become hard, sticky and sickle shaped. When they go through small blood vessels, they clog the flow and break apart. This can cause pain, damage and a low blood count, or anemia. Complications from the sickle cells blocking blood flow and early breaking apart include: • • • • • • • • • • • • • pain episodes strokes increased infections leg ulcers bone damage yellow eyes or jaundice early gallstones lung blockage kidney damage & dehyration blood blockage in the spleen or liver eye damage low red blood cell counts (anemia) delayed growth Inheritance of Sickle cell anemia • • • • • • Normal hemoglobin allele - (N) Sickle cell hemoglobin allele – (S) Normal RBC’s (NN) Carrier for Sickle cell anemia (NS) Sickle Cell Anemia (SS) Normal RBC and Sickle RBC genes are codominant. IF the gene is present, it will show Where is it found? • Basically found in people of African decent. • 19% of Americans of African ancestry. • 40% of population of Africa carry the trait. • Carriers of SC anemia (NS) have a partial resistance to MALARIA Malaria Sickle Cell Anemia Distribution of Malaria Distribution of SCA Problems: 1. A woman who is a carrier for SCA has children with a man who does not have an allele for SCA. What could their children be? 2. What are the chances of a carrier having a child without the SCA allele with a person who has SCA? Multiple Alleles • For some traits, there are more than 2 alleles for a given trait. – Ie. Blood types There is the A, B and o alleles – Hair color: Red, blond and brown – Eye color: Blue, green and brown Blood type alleles For simplicity, we call these IA A IB B i o Blood type A B AB O Possible genotypes AA Ao BB Bo AB oo • With the two blood antigens (proteins located on the RBC): A=B>o • A type blood contains the A antigen (blood protein) on its RBC’s. Produces anti-B antibodies • B type blood has the B antigen on its RBC’s. Produces anti – A antibodies • AB blood has both A & B antigens • Produces no antibodies against the 2 types of blood proteins • O blood contains no blood antigens Produces both anti –A & anti – B antibodies • When a person with type A is given type B blood in a transfusion, the person’s blood starts producing anti – B antibodies, causing the blood cells to agglutinate (clump up). • This is a type of transplant rejection. Animation What mixes with what? Blood type Can donate to • A A, AB • B B, AB • AB* AB • O** A, B, AB, O • ** Universal donor Can receive from A, O B, O A, B, AB, O O * Universal receiver Problems 1. Figure out what blood type two parents must be in order to have 4 children, each with a different blood type. 2. Who could be the father? A woman with O type blood has a child with B type blood Man #1 is A type blood Man #2 is AB blood 3. What could be your blood type? What is with the + and – with blood types? • Rh factor – Additional blood antigens – named after the Rhesus monkey • Rh+ - has the Rh antigens • Rh- doesn’t have the Rh antigens Produces anti – Rh+ antibodies • Rh + is dominant over the Rh- allele. Mother RhRh- Father Rh+ Rh- Child Rh+ Rh- • Problem may arise with a woman who is Rhhaving a child with a man who is Rh+. – Since Rh+ is dominant, the child she is carrying most likely is Rh+. • At birth, there is a mixing of maternal and fetal blood (at the placenta). Immediately, the mother’s blood starts to build up anti – Rh+ antibodies. • Since #1 child is born and away from the mother, there is no problem for this child. With each additional birth though, the mother’s blood has antibodies to the child’s blood. Fetal blood agglutinates, possibly causing still births. • Problem solved by giving the mother a Rogam shot. Actually, this is an anti- anti – Rh+ shot. Makes it like she never had a child. Polygenic Inheritance • Some human traits are controlled by more than one set of genes that determine the expression of the traits. • Ie. Eye color (controlled by 3 genes), hair color, height, body weight, skin color, etc… Light blue 0 dominate alleles Blue 1 dominate allele Blue-green 2 dominate alleles hazel 3 dominate alleles Light brown 4 dominate alleles Brown 5 dominate alleles Dark brown / black 6 dominate alleles