Biology 11A Lab #5 Genetics and Inheritance Pre-LabQuestionsCompletesentencesasalways! 1. Give an example of the following terms. You are not writing a definition. a. b. c. d. e. Genetic trait Genotype Phenotype Dominant trait Recessive trait 2. Make a drawing that includes these labels: a. Gene e. homologous pairs of chromosomes b. Allele c. chromosome d. chromatid Movie Discussion: The Human Race PBS Lab #5: Genetics & Inheritance Work in groups of two This lab is designed to demonstrate genetics, or the study of how heritable characteristics are passed from generation to generation. Genetic traits are determined by genes, or small segments of DNA carried on chromosomes that determine physical characteristics. This exercise demonstrates how different alleles of the same gene segregate and reassort (separate and come together) in a population. human genetic traits to illustrate the simple dominant-recessive relationship between alleles in humans. Summary of Activities 1. Demonstrate some of Mendel’s principles of genetics by simulating different types of mating crosses. 2. Examine at the effect of natural selection on the frequency of alleles in a population. 3. Observe some single-gene genetic traits in humans. Gene frequencies for a population will not necessarily show the same dominant/recessive ratios that you see for the offspring of a specific mating pair. When we calculate gene frequency, it is unlikely that we will have a 3:1 ratio of dominant traits to recessive traits. In our case, it is probably due more to small sample size than anything else. If you had a large immediate family to survey, these should segregate in a more classically Mendelian fashion. § I. Human Genetic Traits Some human traits exhibit the simple dominant and recessive behavior of a monohybrid cross similar to Mendel's peas. However, the expression of many other human traits, like skin color or height, is much more complex and the genetics cannot be easily studied. We will look at a few easily observed 1. Mark your appropriate phenotype for each trait on the chart. 2. Record the data for the class. 1 A. Mid-digital Hair: The presence of hair on the middle joint of the finger is a dominant trait. Hair may not be present on all of your fingers, but if you have hair on even one finger, you are dominant. J. B. Tongue Rolling: The ability to roll the tongue upward from the sides is a dominant trait. For some reason, people who exhibit this trait seem to think it is a desirable thing to do. As far as anyone knows, tongue rolling has no obvious anatomical or physiological advantage or disadvantage. II. Mendelian Genetics: Monohybrid Crosses A monohybrid cross is the genetic transmission of a single trait. For this exercise, each person will receive colored beads that represent different alleles of a gene. Red will represent the allele for the dominant characteristic (designated in writing as “A”), while yellow will represent the allele for the recessive characteristic (written as "a"). The combination of two beads determines the genotype. Since gametes contain only one copy of each gene, a single bead also represents a gamete. C. Widow's Peak: A distinctive downward point of the frontal hairline is a dominant trait known as a widow's peak. If you have a straight hairline, you are recessive for this trait. D. Free Earlobes: Free earlobes are dominant over attached earlobes. Read the introduction to Chapter 9 for an explanation of how this trait is produced during fetal development. You will “mate” (exchange gametes) with one lab partner and determine the genotypes and phenotypes of the offspring that result from each mating, or “cross”. E. Eye Color: Brown pigmented irises are dominant. The absence of brown pigment results in blue eyes, which is recessive. Hazel or green eye color is the result of a second gene that produces a yellow pigment. Hazel eyes have both brown and yellow iris pigment, while green eyes have both the recessive blue iris and dominant yellow pigment. For our purposes, assess only the presence of absence of brown pigment. A. F1 Generation: Work in pairs 1. For the first mating you will have a homozygous genotype. One lab partner will use two red beads, representing the dominant genotype. The other lab partner will use two yellow beads, representing the recessive genotype. F. Facial Dimples: Dimples, or indentations, at the corner of the mouth are a dominant trait. 2. Mate with your lab partner by shaking your beads in your cupped hands and selecting one without looking. Pair it with your partner's randomly chosen allele; these two beads represent the two alleles carried by your offspring. Record the genotype of your offspring in Table 1 of the attached data sheet. G. PTC Tasting: The ability to taste the chemical phenylthiocarbamide, or PTC, is a dominant trait. Place a piece of PTC paper on the back of your tongue. If you can detect this chemical, it will have a bitter taste. If the paper does not taste nasty to you, then you are recessive for this trait. 3. Mate with your lab partner 9 more times to produce a total of 10 offspring. Record the genotype of each offspring in Table 1. H. Hitchhiker's Thumb: The ability to bend the thumb backward at least 45o is a dominant trait. The proper term for this is distal hyperextensibility. I. Palmaris Longus Muscle: The presence of this muscle is a dominant genetic trait. If you have this muscle you will have three wrist tendons. To determine this, clench your fist tightly and flex your hand toward you. If you can see or feel three tendons in your wrist, you have the long palmar muscle and are dominant. If you have only two tendons, then you are recessive for this trait. 4. Report your results to the class and determine the class total for each genotype. Answer the following questions in your notebook. Relative Length of the Big Toe: If your big toe is shorter than your second toe, you are dominant for this trait. B. F2 Generation: 2 This mating involves self-fertilization of the first generation produced by the first cross. B. Selection against the aa genotype (Deleterious allele) 1. Each person of the pair will now have the genotype of the F1 offspring. We have just seen how two alleles of the same gene can be passed on if both genes have an equal chance of surviving. Now we will demonstrate what happens to allele frequency when there is a selective disadvantage to a particular genotype. In particular, genotype “aa” causes a fatal disease which results in death during childhood. 2. Mate with your lab partner 10 times to produce ten offspring. Record the genotypes of your offspring in Table 1. 3. Report your results to the class and determine the class total for each genotype. Answer the following questions in your notebook. 1. Everyone will begin with a heterozygous genotype. (Everyone is healthy, but carries a recessive gene for the disease.) Record your initial genotype on the first line of Table 3. III. The Gene Pool: Allele Frequency 2. Instead of mating with your lab partner, roam around the room and find another person in the class AT RANDOM (without respect to charm, appearance, or even gender) to mate with. Mate twice. These two offspring will replace you and your partner in the next generation. If one offspring has the genotype is "aa", it dies. One of you cannot reproduce again. If both offspring are “aa”, then neither of you can reproduce again. Record your offspring's genotype in Table 3. Allele frequency refers to how often a particular allele appears in a population. Evolution can be defined as a change in the frequency of alleles in a population over time. The allele frequency for a given trait changes over time in response to changes in the environment. At first you saw how natural selection influenced changes in the frequency of a particular phenotype. This exercise will illustrate how natural selection influences genotype. A. How To Calculate Allele Frequency Stop at this point until everyone in the class has finished mating. Think of a population as a pool of genes instead of individuals, as though each of the individuals pulled out his or her genes and threw them in a big pot. 3. You will now assume the identity of your offspring and take on its genotype. Remember, if you were aa, you cannot mate again. If you are “AA” or “Aa”, replace your beads with the appropriate colors. Suppose we have a population of 100 individuals: • • • 25 of which are "AA" 50 of which are "Aa" 25 of which are "aa" 4. Find a new partner to mate with and produce two offspring. Record the genotypes. Again, if you produce an "aa" offspring, you cannot mate in the next generation. This population contains 200 total alleles, because 100 individuals with 2 alleles each = 200 alleles total. 5. Repeat the mating four more until a total of six generations have been completed. Every time that a new generation is mating, ALL THE CLASS must be on the same generation. Counting up all the "A's" in the population, we find there are 100 because: + 2 X 25 = 1 X 50 = 50 "AA" 50 "Aa" 100 "A" genes 6. Report your results to the class and record the class results in Table 4. Calculate the allele frequencies for each generation based on the class results. Answer the following questions in your notebook. Allele frequency of "A" is 100/200 = 0.5 (or 50%). Similarly, the allele frequency for "a" in this population is 0.5 (or 50%). 3 Lab #5: Genetics & Inheritance Data Sheets Name _____________________ The dominant trait is the first listed of each pair. Table 1 Trait Your Phenotype Mid-digital Hair No Mid-digital Hair Tongue Rolling No Tongue Rolling Widow's Peak Straight Hairline Free Earlobes Attached Earlobes Brown Eye Color Blue Eye Color Dimples No Dimples PTC Taster Non-Taster Hitchhiker's Thumb Straight Thumb Longer Second Toe Longer Big Toe Palmaris Longus Muscle Two Wrist Tendons 4 Class Data NAME _______________________ Lab am or pm ____________ I. Monohybrid Cross: Make a hatch mark to keep count of each genotype that is produced during your matings. Table 2 Number of Offspring Genotype of Mating Pair: AA X aa Homozygous Dominant (RR) No. of your F1 offspring: No. of your F2 offspring: Total No. of CLASS F1 offspring: Total No. of CLASS F2 offspring: Your genotypic ratio: Class’s genotypic ratio: 5 Heterozygous (Rr) Homozygous Recessive (rr) Natural Selection Against the Recessive Phenotype Table 3: Your Individual Genotypes Your Genotype Original Genotype Genotype of 1st Generation Genotype of 2nd Generation Genotype of 3rd Generation Genotype of 4th Generation Genotype of 5th Generation Genotype of 6th Generation Table 4: Class Genotypes No. of people with genotypes: RR Rr rr No. of Individual Alleles R r Original Genotype Genotype of 1st Generation Genotype of 2nd Generation Genotype of 3rd Generation Genotype of 4th Generation Genotype of 5th Generation Genotype of 6th Generation 6 Allele Frequency R r Problems for Inheritance 1. For each phenotype, list the genotypes. (Remember to use ONE letter, that of the dominant trait) Straight hair is dominant to curly. ____________ straight ____________ straight ____________ curly Pointed heads are dominant to round heads. ____________ pointed ____________ pointed ____________ round 2. In guinea pigs, the allele for short hair is dominant. Pick a letter different from problem #1 What genotype would a heterozygous short haired guinea pig have? ________________ What genotype would a purebred short-haired guinea pig have? ________________ What genotype would a long-haired guinea pig have? ________ Simple Monohybrid Cross 3. You cross a heterozygous short-haired guinea pig with a longhaired guinea pig. Write out the Punnett square for this cross. What % of guinea pig offspring would be long-haired? 4. Let’s say your Mom was homozygous dominant for tongue-rolling, and your Dad is can’t roll his tongue at all. What percentage of the offspring will be able to roll their tongues? Write out the Punnett square. 7 5. Second toe longer than the first toe is a dominant trait in humans. If one of your parents had a second toe longer than the first and the other parent did not, what would their genotypes be? __________ What percentage of their offspring would have the second toe longer than the first? Write out the Punnett squares. Sex-linked problems 6. A human female "carrier" who is heterozygous for the recessive, sex-linked trait causing redgreen color blindness, marries a normal male. What proportion of their male progeny will have red-green color blindness? Write out Punnett square. 7. Hemophilia in humans is recessive, and due to an X-chromosome mutation. What will be the results of mating between a normal (non-carrier) female and a hemophiliac male? How many daughters would have hemophilia? How many sons would have hemophilia? Write our Punnett square. Red Incomplete Dominance 7. In a certain fish, blue scales (b1b1) and red scales (b2b2) have incomplete dominance. When a fish has the genotype b1b2, it has a patchwork of blue and red scales. What happens if you breed this fish (b1b2) with a fish that only has blue Scales? What percentage of offspring will be Red? What percentage will be “patchwork”? Write out Punnett square. 8 Blue 8. Sneetches, because of incomplete dominance, come in three sizes: Small, medium or tall. If a small sneetch Mom mates with a medium sneetch Dad, what percentage of tall sneetches will be born from that couple?______________ What percentage of offspring will be medium? _____________ Dihybrid Cross 9. In rabbits gray hair is dominant to white hair. Also black eyes are dominant to red eyes. GG = gray hair BB = black eyes Gg= gray hair Bb = black eyes gg= white hair bb = red eyes A male rabbit with the genotype GGbb is crossed with a female rabbit with the genotype ggBb. Figure out the genotype and proportions in the offspring. How many out of 16 have gray fur and black eyes? ____________ How many out of 16 have gray fur and red eyes? ______________ How many out of 16 have white fur and black eyes? ___________ How many out of 16 have white fur and red eyes?______________ 10. This time you set up the square. Show me the set up. Dihybrid squares are trickier. Suppose that black hair (B) is dominant over blonde hair (b) and brown eyes (E) are dominant over blue eyes (e). The father has black hair (heterozygous) and brown eyes (heterozygous) and the mother has blonde hair and blue eyes. Write out the Punnett square. a. What percent of the offspring will be totally heterozygous? b. What is the phenotype ratio? c. What percent of the offspring will have blonde hair and blue eyes? 9 Lab Report: Answer these questions. (If you don’t have complete sentences as answers, no points! L) Type for next week, double spaced. Q1 (From page 4) Which of the phenotypes investigated in the class showed that the dominant trait was not the most frequent trait? Q2 Why is the dominant trait NOT always the most frequent? Explain. F1 Generation Q3. (From page 5) What is meant by this F1 mating? How many possible genotypes are produced by this mating and what are they? Q4. How many different phenotypes are possible resulting from this F1 mating and what are they? Q5. What happened to the recessive phenotype? Explain. F2 Generation Q6. (From page 5) What is meant by tis F2 generation? How many possible genotypes are produced by this mating and what are they? Q7. How many different phenotypes are possible and what are they? Q8. What happened to the recessive phenotype? Why? Q9. How do the results from your group compare with the combined results of the entire class? (Give numbers that compare the two here) Explain why some matings do not result in the classic 1:2:1 genotypic ratio. 10 Deleterious allele (Keep using complete sentences!) Q10. (From page 6) How does the frequency for each allele change over the generations? Give me percentages here. Is this always expected? Q11. How does the frequency of each genotype change over the generations? Give me percentages. Q12. Explain the effect that natural selection appears to have on allele frequency in a population. Q13. Why doesn't selection against aa individuals lead to the complete loss of the "a" allele from the population? Explain. Q14. What is incomplete dominance? Q15. What is codominance? 11 MORE PRACTICE ! ! ! ! ! These are extra practice problems for you to do if you feel you need the practice. They are not to be turned in. Our next lecture exam has many genetics problems on it so it pays to practice. Rabbits can have solid or spotted coats, and the base color can be either brown or black. Spotted coat color is dominant to solid, and black is dominant to brown. Complete the following problem by answering the following questions. 1. Write down letter designations for the alleles. Be sure to distinguish between the two traits, and be sure to consider which alleles are dominant and recessive. For example, Mendel used P to designate the purple allele, and p to designate the white allele for pea flower color. 2. What would be the genotype of a female spotted brown rabbit whose mother was solid black? 3. What would be the genotype of a male solid black rabbit whose parents were homozygous for the black allele? 4. If you cross these two rabbits, what kinds of gametes would be produced by the spotted brown rabbit? 5. What kinds of gametes would be produced by the solid black rabbit? 6. Draw a Punnett square showing the mating of this pair of rabbits. 7. What proportion of the offspring of this cross would you expect to be spotted brown? Solid black? 12