Genetics Unit II: Mendelian Genetics (see guidelines on page 10) Page 90 Genetics Unit II: Mendelian Genetics At the end of this unit, I will: Explore fundamentals of inheritance by examining cellular processes. Know how to create and interpret a punnett square. Know how to create and interpret a pedigree chart. Be familiar with a specific genetic condition for which I will have created an informational brochure. Roots, Prefixes and Suffixes I will be able to understand when I see them in words are: Homo-, hetero-, geno-, pheno-, co-, poly-zygous, -genic The terms I can clearly define are: Group One: Genetics, allele, dominant, recessive, homozygous, heterozygous, genotype, phenotype, law of segregation, hybrid, and law of independent assortment Group Two: Carrier, pedigree Group Three: Incomplete dominance, codominance, multiple alleles, epistasis, sex chromosome, autosome, sex-linked trait, polygenic trait The assignments I will have completed by the end of this unit are: Mendelian Genetics Unit Cover Page A brochure informing potential parents about a specific genetic disorder Have learned about other genetic disorders from my classmates Completed the Monohybrid Cross Worksheet Understood common Human Genetic Traits through an independently-guided activity Completed the “Making Faces” Activity with a classmate and drawn our offspring Completed the “Inheritance of Blood Types” worksheet Partnered up with a classmate to finish the activity “How are Traits on Sex Chromosomes Inherited?” Completed the Genetics Review Made a pedigree for the Gonzales family of Venezuela, tracking Huntington’s Disease Completed the pedigree questions for Duchenne Muscular Dystrophy Mendelian Genetics Unit Concept Map Page 91 Genetics Facts and Fallacies The following 20 statements relate to various genetic principles, many of which are associated with common false ideas and superstitions. Certain of the statements are true and others are false. Read the following statements and record whether the statements are true or false. ______1. Certain acquired characteristics, such as mechanical or mathematical skill, may be inherited. ______2. Identical twins are always of the same sex. ______3. Fraternal twins are more closely related to each other than to other children in a family. ______4. The father determines the sex of the child. ______5. Each parent contributes half of a child's genetic make-up. ______6. Certain thoughts or experiences of a mother may mark or alter the hereditary makeup of an unborn child (not including drugs). ______7. Color-blindness is more common in males than females. ______8. A person may transmit characteristics to offspring that is not present in that person. ______9. Certain hereditary characteristics are influenced by the blood. ______10. Identical twins are more closely related than fraternal twins. ______11. Certain inherited traits may be altered by the stars, moon, or planets early in development. ______12. Males are biologically stronger than females. ______13. The tendency to produce twins may run in families. ______14. A craving for a certain food, such as strawberries, may cause a birthmark on an unborn child. ______15. Many of a person's inherited traits do not appear. ______16. The parent with the stronger will contributes more to a child's inheritance than the other parent. ______17. If a person loses a limb in an accident, it is likely that he or she will have a child with a missing limb. ______18. The attitude of parents toward each other influences the emotional make-up of an unborn child. ______19. Children born to older parents lack the vitality (energy) of those born to younger parents. ______20. The total number of male births exceeds female births each year. Page 92 Genetic Disorders: Expert group assignments You have been assigned one of the following genetic disorders: Color Blindness Cystic Fibrosis Down’s Syndrome Duchenne Muscular Dystrophy Edward’s Syndrome Fragile X Syndrome Hemophilia Huntington’s Disease Klinefelter’s syndrome Marfan’s Syndrome Patau’s Syndrome Phenylkaptonuria Sickle Cell Anemia Tay-Sachs Disease Turner’s Syndrome Werner’s Syndrome You will work alone on this project. If you have a disease that a classmate has, you may collaborate during research, but you may not present the same material in your brochure. You will design a brochure informing potential parents of your assigned genetic disorder. In your brochure, you must answer the following questions: 1. How does this human genetic disorder occur? If inheritance is involved, is the trait dominant or recessive? 2. How common is this disorder? 3. What group(s) of people are primarily affected by the disease? 4. What are the symptoms? How does the disease effect the afflicted? 5. Any other relevant information (see guidelines on page ____) In addition to answering those essential questions, you must include the following technical and design elements: 1. It must include a pedigree or a karyotype. The pedigree chart must have a minimum of three generations. The first generation must have one parent that is a carrier or displays the disorder. The karyotype must identify which chromosome is involved. 2. It must be interesting, creative, and tasteful. Include pictures of people with the disorder. Be respectful of your subject and the audience. 3. It must be easy to follow and understand – create a smooth sequence, and include titles for the different sections. 4. It must have at least three resources cited at the end of the brochure. 5. It must have a horizontal or landscape orientation. 6. It must have information on every fold of the brochure – each page should have at least half of the information in text. 7. The font should be easy to read, not too large or too small. If in doubt, use the standard, “Times New Roman,” size “12.” Page 93 How to Make a Brochure Using Microsoft Word Microsoft word already has a template prepared for you to make a brochure. All you have to do is cut and paste your own text into the brochure and print it! (1) To access this template, go to FILE and select NEW on the top of the screen, as shown: Page 94 (2) A menu like this will pop up: Double click on BROCHURE, or click on BROCHURE once and click OK. (3) The template will be on your screen. It is already filled with words (garbage mostly). All you have to do its cut those words out and paste or type in your own (4) You have to be aware on how WORD orients the brochure on the screen versus what you actually see when you print it out. Remember, brochures are double sided. Therefore, the template has a total of 2 pages (you have to scroll down for the 2nd page): Page 95 Page 96 When you print you would have to print the first page first, then slide that same paper back into your printer to print the 2nd page to get the double sided effect. You should play around with this with what you have on the template so that you know how to print out your final copy. You should do this to know how to orient the paper correctly - play around to familiarize yourself with it! (5) You may print the brochure up in black and white, but if you would like to print your brochure up in color – and you do not have access to a color printer. You may print it up on your teacher’s printer BEFORE the due date. You may not print your brochure up on your teacher’s computer on or after the due date. You may want to follow the following suggested layout for your brochure: The First Page of Your Brochure: This is the part that’s on the outside of the brochure when it is folded. The following sections are in order, from the left to the right: The first trifold: This will sum up the “meat” of your information. A suggested section for this is “Prognosis.” This is where you will discuss information like how long a patient with this disorder is expected to live, etc. The second trifold: This should include your “Works Cited.” Be sure to cite every image that you used. If you included any information that is not general knowledge (i.e., medical information or statistics) cite where you got this information. Include the full web address, if accessed online, not just “dictionary.com.” The third trifold: This is the Cover of the brochure. Include the name of your disorder, your name and your period. It is helpful to include an image and a brief summary of your disorder. The Second Page of Your Brochure: This is the part that is folded in, and will contain the “meat” of your information. The following folds are described, left to right. The first trifold: You may want to make this fold “About (your disorder).” This is where you can include the discovery of the disorder, how common the disorder is, and the group(s) of people affected. The second trifold: This should include your “Diagnosis” section. Include the tests that are performed to determine if an individual has this disorder, the symptoms, and any risk factors that make a person more likely to inherit this condition. The third trifold: This is the “Heredity” section. You should include the karyotype or pedigree in this section, as well as information about how this is inherited. If it’s known which chromosome the disorder is located on, include this. If it is sex-linked or autosomal, you must include this information. If it is dominant or recessive, this must be included. Page 97 Genetic Disorder Klinefelter Syndrome How is it inherited? What are the symptoms/ What’s the prognosis? Down Syndrome Edward Syndrome Fragile X Syndrome Duchenne Muscular Dystrophy Huntington’s Disease Patau Syndrome Werner Syndrome Turner Syndrome Hemophilia Sickle Cell Anemia Color Blindness Phenylketonuria (PKU) Marfan Syndrome Tay Sachs Disease Cystic Fibrosis Page 98 After watching the video clip, briefly summarize Mendel’s observations: ____________________________________________________________________________________ ____________________________________________________________________________________ Why did this happen? __________________________________________________________________ ____________________________________________________________________________________ Page 99 Mendelian Genetics: A Brief History What was an early idea about Heredity? The __________________ Theory: • Main theory of inheritance until the late 19th century. • Each parent contributed factors that were _______________ in the offspring. What were the problems with this theory? 1. _________________________________________ _________________________________________ 2. _________________________________________ _________________________________________ Who was Gregor Mendel? • • • Augustinian monk who studied _________ plants Established the _____________________ theory of heredity Significance of work: 1. Developed ___________ _____________ • Why did Mendel Research pea plants? 2. Counted results and kept _______________ notes His work remained undiscovered until _______. 1. They are normally ___________ pollinated, but can be _____________________________. 2. They have several _________________ traits that are easy to distinguish. (i.e., __________________) What were the steps of Mendel’s research? 1. Removed stamens from ____________ flower. 2. Transferred pollen from stamens of _________ flower to pistil of ___________ flower. 3. The pollinated flower matured into a pod. 4. Planted seeds from pod. 5. Examined offspring: ____________________ Page 100 Page 101 Mendelian Genetics: Mendel’s Conclusions What was Mendel’s first Conclusion? 1. Law of _________________________ a. Factors (genes) for a particular trait occur in ____________. b. For each trait, an organism inherits two genes, one from each ________________. c. Dominant alleles ____________ recessive ones. i. Exception 1: __________________ ______________________ ii. Exception 2: __________________ d. Two alleles for each trait ______________ during gamete production. What was Mendel’s second Conclusion? 2. Law of __________________ ________________ If the genes are not connected, then they should segregate ____________________. Page 102 Monohybrid Cross Worksheet Part A: Vocabulary Match the definitions on the left with the terms on the right. ____ 1. genotypes made of the same alleles A. alleles ____ 2. different forms of genes for a single trait B. dominant ____ 3. gene that is always expressed C. heterozygous ____ 4. gene that is expressed only in the homozygous state D. homozygous ____ 5. genotypes made of two different alleles E. recessive Below each of the following words are choices. Circle the choices that are examples of each of those words. 6. Dominant allele D e k L N n R S d F G r k P mm uu Rr TT Oo qq Uu ww 7. Recessive allele M n 8. Homozygous dominant AA Gg KK 9. Homozygous recessive ee Ff HH 10. Genotypes in which dominant gene must show AA Dd EE ff Jj RR Ss 11. Genotypes in which recessive gene must show aa Gg Ff KK rr Oo Tt Part B: Punnett Squares 12. Examine the following Punnett squares and circle those that are correct. D d D D A a A a d Dd dd d Dd DD A AA aa a Aa aa d Dd dd d Dd Dd a Aa Aa a Aa aa 13. What do the letters on the outside of the Punnett square stand for? ______________________ ___________________________________________________________________________ 14. What do the letters on the inside of the Punnett square stand for? ________________________ ___________________________________________________________________________ Page 103 15. In corn plants, normal height, N, is dominant to short height, n. Complete these four Punnett squares showing different crosses. Then, shade red all the homozygous dominant offspring. Shade green all the heterozygous offspring. Leave all the homozygous recessive offspring unshaded. N N N n N n N n N N n n N n n n 16. In guinea pigs, short hair, S, is dominant to long hair, s. Complete the following Punnett squares according to the directions given. Then, fill in the blanks beside each Punnett square with the correct numbers. a. One guinea pig is Ss and one is ss. Expected number of offspring: ____ Short hair (SS or Ss) ____ Long hair (ss) b. Both guinea pigs are heterozygous for short hair. Expected number of offspring: ____ Short hair ____ Long hair Part C: Monohybrid Cross Problems - Show your work. 17. Hornless (H) in cattle is dominant over horned (h). A homozygous hornless bull is mated with a homozygous horned cow. What will be the genotype and phenotype of the first generation? P1 F1 18. In tomatoes, red fruit (R) is dominant over yellow fruit (r). A plant that is homozygous for red fruit is crossed with a plant that has yellow fruit. What would be the genotypes and phenotypes of the P1 and F1 generations? P1 F1 Page 104 19. If two of the F1 generation from the above cross were mated, what would be the genotypes and phenotypes of the F2? F1 F2 20. In humans, being a tongue roller (R) is dominant over non-roller (r). A man who is a non-roller marries a woman who is heterozygous for tongue rolling. Father’s phenotype ________ Mother’s phenotype _________ Father’s genotype ________ Mother’s genotype _________ What is the probability of this couple having a child who is a tongue roller? ________ 21. Brown eyes in humans are dominant to blue eyes. A brown-eyed man, whose mother was blue-eyed, marries a brown-eyed woman whose father had blue eyes. What is the probability that this couple will have a blue-eyed child? _______ Page 105 Human Genetics- Mendelian Inheritance INTRODUCTION: Each human is unique. Except for identical twins this difference is due largely to differences in genotype. Each human has approximately 30,000 genes which control his/her characteristics. The autosomal traits mentioned in this lab are found on one of the first 22 chromosome pairs in the nuclei of each of your cells. PURPOSE: To investigate the inheritance of human characteristics. PROCEDURE: Autosomal Traits. Use the following information to determine which of the following traits you exhibit. Write your phenotype in the appropriate space and circle your possible genotype(s). 1. The ability to taste the chemical PTC (phenylthiocarbamide) is an inherited characteristic determined by a dominant gene. This harmless chemical can be tasted by some people but not by others. Taste a piece of paper that has been impregnated with PTC. If you detect a bitter taste, you are designated as a taster. If you detect no taste other than the paper itself, you are known as a nontaster. Your phenotype ________________________________ Your genotype(s) TT Tt tt 2. A dominant gene determines that earlobes hang free and are not attached directly to the side of the head. In some people, the earlobe is attached directly to the side of the head, so that there is no lobe hanging free. The attached earlobe is due to a recessive allele. Your phenotype ________________________________ Your genotype(s) Attached FF Ff ff Free 3. Some people can bend the distal, or end, joint of the thumb back beyond an angle of 45o. This is called hitch hikers thumb. Normal thumb angle is dominant and hitchhiker’s thumb is recessive. Your phenotype ________________________________ Your genotype(s) Normal thumb NN Nn nn Hitchhiker’s thumb Page 106 4. Some people have the ability to roll the tongue into a U-shape when the tongue is extended from the mouth and are known as a roller. This tongue rolling ability is caused by a dominant allele. People who do not possess this allele can only produce a slight downward curve of the tongue when it is extended from the mouth and are known as a non-roller. Your phenotype ________________________________ Your genotype(s) Non-roller RR Rr rr Roller 5. Some people exhibit the characteristic of a hairline that comes to a distinct point in the middle of the forehead. This is known as a widow's peak which results from the action of a dominant allele. The recessive allele determines the characteristic of a smooth hairline. Your phenotype ________________________________ Your genotype(s) Smooth Hairline WW Ww ww Widow’s Peak 6. Note the length of your big toe in relation to the length of your second toe. The presence of a dominant allele determines that the big toe is shorter than the second toe. A recessive allele determines that the big toe is longer than or equal in length to the second toe. Your phenotype ________________________________ Your genotype(s) SS Ss ss 7. A dominant allele determines the presence of dimples. A recessive gene determines the non-dimpled trait. Your phenotype ________________________________ Your genotype(s) Nondimpled DD Dd dd Dimpled Page 107 8. A dominant allele determines the presence of freckles. A recessive allele determines the nonfreckled trait. Your phenotype ________________________________ Your genotype(s) Nonfreckled FF Ff ff Freckled 9. Some people have the end of the little finger bent inward. This bent little finger is due to the presence of a dominant allele. A straight little finger is due to a recessive allele. To determine if you have the dominant or recessive allele, hold your hands out and look at the angle of the little finger in relation to your palm. Your phenotype ________________________________ Your genotype(s) BB Bb bb 10. Note the presence of absence of hair on the middle joints of your fingers. The presence of mid-digital hair is due to a dominant allele and the absence of middigital hair is due to a recessive allele. Other alleles determine whether hair will grow on other joints of the fingers and the amount of growth. To observe the hair, hold your fingers up to the light; some individuals have very light hair on their fingers. Your phenotype ________________________________ Your genotype(s) Absence of Hair MM Mm mm Mid-Digital Hair DISCUSSION: 1. In this lab, how many dominant traits did you show?_____________________________ How many recessive traits did you show?________________________________________ 2. If you have more dominant traits than recessive, does this mean you are a stronger person than someone with more recessive traits?________________________________ Why or why not? _________________________________________________________________ _________________________________________________________________________________ 3. A man who was heterozygous for normal thumb angle married a woman who had hitchhiker’s thumb. Give the genotype of each parent and the chance of them having a child with hitchhiker’s thumb. Father's genotype_____________ Mother's genotype___________ Chance of having a child with hitchhiker’s thumb ____________________ Page 108 Making Faces You are heterozygous for each trait on your chromosomes. You will combine your alleles with a classmate’s to see if your offspring look like you – and hopefully not like this guy! Partner up with a member of the opposite sex. If you are left with a member of the same gender, one of you will have to use a class set of chromosomes for the under-represented gender. If you are a boy, you will have to use one of the class sets of chromosomes reserved for girls (the pink one). Once you have found your “mate,” move away from other pairs of two students and begin by producing your gametes (this is called gametogenesis). Follow the instructions below to make a baby! 1. Hold no more than three chromosomes at a time high in the air above your head. 2. Drop your chromosomes at the same time. If they do not twirl, drop them again. 3. When you pick up each chromosome, make sure that it stays in the position in which it landed. 4. Repeat steps 1 – 3 for all of your chromosomes. Once you have finished dropping chromosomes, it is time to figure out what combinations you and your class-mate have! 5. Find a desk or lab bench and lay all of your chromosomes out in descending size order (Chromosome 1 will be the largest and Chromosome 22 will be the smallest) 6. Use the “Genotype to Phenotype Translation Booklet” to determine what your baby will look like. Start on the first page with “Sex Determination” and work through each trait in the book. 7. Fill in the data log on the page as you combine traits with your class-mate. Make sure to note the genotype and phenotype. 8. Once your chromosomes are organized, you should be able to answer the following: What is the gender of your baby? Use the table on the next page to fill in your genetic information. Remember that some traits will have many genes that code for the trait! 9. Answer the questions that follow the data table, and on the following question sheet, and in color, each partner should draw an accurate picture of their "child" based upon the data collected above. The child’s name, as well as both parent’s names should be written at the bottom of the image. Page 109 Trait Trait No. 1 Face Shape 2 Chin Shape 3 Chin Shape 4 Cleft Chin 5 Skin Color 6 Hair Type 7 Widow's Peak 8 Color of Eyebrows 9 Eyebrow Thickness 10 Eyebrow Placement 11 Eye Color 12 Eyes-Distance Apart 13 Eyes-Size 14 Eyes-Shape 15 Eyes-Slantedness 16 Eyelashes 17 Mouth Size 18 Lips 19 Protruding Lip 20 Dimples 21 Nose-Size 22 Nose Shape 23 Nostril Shape 24 Earlobe Attachment 25 Darwin's Ear points 26 Ear Pits 27 Hairy Ears 28 Freckles on Cheeks 29 Freckles on Forehead Gene from Mother Gene from Father Genotype Phenotype Page 110 Classmating Questions 1. When you originally cut the chromosomes up in pairs (before folding), these represented the chromosomes of your cells. Are your cells diploid or haploid? __________ Why? 2. When you folded the pair of chromosome and dropped them so only half of your chromosomes were facing up, what does this have to do with sex cell formation? _____ Were these sex cells haploid or diploid? ______________ Why? ______________________________________________________ 3. What is the number of the chromosomes you had before you dropped them to the floor? (think of both sides as being two separate chromosomes) ______________________________________________ 4. How many chromosomes did you donate to the sperm or egg? (when you dropped them) ______________________________________________ 5. When you and your mate pushed the homologous pairs of chromosomes together, what process did this represent? _________________________ 6. What was the number of chromosomes in your new baby (after you pushed the chromosomes together?) _____________________________ 7. What is the female gamete called? ________________ What is the male gamete called? _________________ What process created the gametes? _____________________ 8. Explain why people that had the genotype "ll" for non-prominent chin had to skip the rest of the chin characteristics. _________________________ ___________________________________________________________ 9. How is it that there are so many colors of skin? _____________________ ___________________________________________________________ ___________________________________________________________ 10. What is the difference between a genotype and a phenotype? Page 111 Inheritance of Blood Types The four basic blood types are determined by the presence or absence of the A and B antigens in the red blood cells. For clarity, consider blood types as being determined by a single pair of genes. Use the following information to complete the table below. Blood Types A B O AB Blood Types of Parents A and O Possible Genotypes IAIA or IAi IBIB or IBi ii IAIB All possible genotypes of parents All possible genotypes of children All possible blood types of children Blood types not possible for children IAIA or IAi IAi A B ii ii O AB B and O A and B AB and A AB and B AB and O O and O Page 112 How Are Traits on Sex Chromosomes Inherited? Introduction: Genes for blood clotting and color vision are located on the sex chromosomes, specifically the X chromosome. Remember, females have two X chromosomes (XX) while males have one X and one Y (XY). Hemophilia is a disease in which the person's blood will not clot. The disease is inherited. If you have the dominant gene "H", you will have normal blood. If you have only the recessive gene "h", your blood will not clot normally. Color blindness is a genetic condition in which a person does not see certain colors, such as green and red. This person will see green as a gray color and red as a yellow color. If you have at least one dominant gene "B", you can see all colors. If you have only recessive genes "b", you cannot see green and red. In this lab you will a. toss coins to show children born in four families. b. see how hemophilia and color blindness are inherited in several families. c. solve genetic problems involving hemophilia and color blindness. MATERIALS: envelope with 3 labeled coins plastic bag with four labeled coins PROCEDURE: Part A- Hemophilia A female can be XHXH, XHXh, or XhXh for blood clotting. A male can be XHY, or XhY. Family 1. Offspring of parents who are normal, the mother is a carrier for hemophilia. 1. Find the following coins in your envelope. XH Y Coin 1 Male XH Coin 2 Female Xh These coins represent the genes of the parents. The coin with the Y chromosome is the father and the coin with an X on each side is the mother. 2. Place both coins in cupped hands. Shake the coins and then drop them on the your desktop. 3. Read the combination of letters that appears. This combination represents the genotype observed in an offspring of these parents. 4. In Table 1 below, make a tallymark (/) beside the correct genotype in the row marked "Offspring Observed". 5. Repeat shaking and reading the coins for a total of 20 times. Page 113 6. Total all offspring observed in the "Total" column. 7. For each genotype, calculate the number of expected offspring out of 20 offspring. Use the expected number of each from your Punnett square on page 1. Record this number in the row labeled “Expected Offspring Number”. If you have observed offspring of a genotype not shown in Table 1 you may have used the wrong coins to collect your data. Table 1: Offspring of XHY Father and XHXh Mother Gene Combinations XHXH XHXh Observed Offspring XHY XhY = 20 Observed Totals = 20 Expected Offspring Number Family 2: Offspring of a father who has hemophilia and a mother who is a carrier for hemophilia. 1. Find the following coins in your envelope. Xh Y Coin 1 Male XH Coin 2 Female Xh These coins represent the genes of the parents. The coin with the Y chromosome is the father and the coin with an X on each side is the mother. 2. Place both coins in cupped hands. Shake the coins and then drop them on on the your desktop. 3. Read the combination of letters that appears. This combination represents the genotype observed in an offspring of these parents. 4. In Table 2 below, make a tallymark (/) beside the correct genotype in the row marked "Offspring Observed". 5. Repeat shaking and reading the coins for a total of 20 times. 6. Total all offspring observed in the "Total" column. 7. For each genotype, calculate the number of expected offspring out of 20 offspring. Use the expected number of each from your Punnett square on page 1. Record this number in the row labeled “Expected Offspring Number”. If you have observed offspring of a genotype not shown in Table 1 you may have used the wrong coins to collect your data. Page 114 Table 2: Offspring of XhY Father and XHXh Mother Gene Combinations XHXH XHXh XhXh Observed Offspring XHY XhY = 20 Observed Totals = 20 Expected Offspring Number PART B- Color Blindness A female can be XBXB, XBXb, or XbXb for the color vision gene. A male can be XBY or XbY for the color vision gene. Family 3. Offspring of a father who is color blind and a mother who is homozygous dominant. 1. Find the following coins in your plastic bag. Coin 1 Xb Y Male XB Coin 2 Female XB These coins represent the genes of the parents. The coin with the Y chromosome is the father and the coin with an X on each side is the mother. 2. Place both coins in cupped hands. Shake the coins and then drop them on on the your desktop. 3. Read the combination of letters that appears. This combination represents the genotype observed in an offspring of these parents. 4. In Table 2 below, make a tallymark (/) beside the correct genotype in the row marked "Offspring Observed". 5. Repeat shaking and reading the coins for a total of 20 times. 6. Total all offspring observed in the "Total" column. 7. For each genotype, calculate the number of expected offspring out of 20 offspring. Use the expected number of each from your Punnett square on page 1. Record this number in the row labeled “Expected Offspring Number”. If you have observed offspring of a genotype not shown in Table 1 you may have used the wrong coins to collect your data. Page 115 Table 3: Offspring of XbY Father and XBXB Mother Gene Combinations XBXB XBXb XbXb Observed Offspring XBY XbY = 20 Observed Totals = 20 Expected Offspring Number Family 4. Offspring of parents who are normal but the mother is heterozygous. 1. Find the following coins in your plastic bag. XB Y Coin 1 Male XB Coin 2 Female Xb These coins represent the genes of the parents. The coin with the Y chromosome is the father and the coin with an X on each side is the mother. 2. Place both coins in cupped hands. Shake the coins and then drop them on on the your desktop. 3. Read the combination of letters that appears. This combination represents the genotype observed in an offspring of these parents. 4. In Table 2 below, make a tallymark (/) beside the correct genotype in the row marked "Offspring Observed". 5. Repeat shaking and reading the coins for a total of 20 times. 6. Total all offspring observed in the "Total" column. 7. For each genotype, calculate the number of expected offspring out of 20 offspring. Use the expected number of each from your Punnett square on page 1. Record this number in the row labeled “Expected Offspring Number”. If you have observed offspring of a genotype not shown in Table 1 you may have used the wrong coins to collect your data. Table 4: Offspring of XBY Father and XBXb Mother Gene Combinations XBXB XBXb XbXb Observed Offspring Observed Totals XBY XbY = 20 = 20 Expected Offspring Number Page 116 Part C- Problems For each of the following problems complete a Punnett Square then record your answers in the spaces provided. 1. A mother who is heterozygous for blood clotting and a father who is normal for blood clotting want to know what their children could be like for blood clotting. Children Number of Number of Males Females Have Normal Blood Have Hemophilia _______ _________ _______ _________ 2. A mother who is homozygous dominant for color vision and a father who is color blind want to know what their children could be like for color vision. Children Number of Number of Males Females Have Normal Color Vision _______ _________ Have Color Blindness _______ _________ 3. A mother who is heterozygous for color vision and a father who is color blind want to know what their children could be like for color vision. Children Number of Number of Males Females Have Normal Color Vision _______ _________ Have Color Blindness _______ _________ Page 117 Discussion Questions: 1. What are the sex chromosomes of females? ___________ 2. What are the sex chromosomes of males? ___________ 3. On which chromosome, the X or the Y, is the gene for color vision located? __________ 4. How many genes do females have for color vision? ___________ 5. How many genes do males have for color vision? ___________ 6. On which chromosome, the X or the Y, is the gene for blood clotting located? _______ 7. How many genes do females have for blood clotting? ___________ 8. How many genes do males have for blood clotting? ___________ 9. Why is there a difference in the number of genes for color vision and blood clotting in males and females? ______________________________________________________________ 10. In Part C, Problem 2, why are there no color blind children even though one of the parents is color blind? ____________________________________________________________ _________________________________________________________________________________ 11. From whom does a son inherit the trait of hemophilia? _____________________________ 12. From whom does a daughter inherit the trait of hemophilia? _______________________ Page 118 Genetics Review: Dihybrid Cross, Incomplete Dominance, Codominance, Multiple Alleles, and Sex-linked Inheritance 1. How are dominant alleles represented? ___________________________________ How are recessive alleles represented? ___________________________________ 2. What do parents produce that combine to make a zygote? ____________________ 3. In humans, normal pigmentation (coloring in skin, eyes, and hair) is dominant to albinism (no color in skin, eyes, or hair). Widow’s peak hairline is dominant to smooth hairline. a. What are the two traits being studied? ________________ and ________________ b. How would the normal pigmentation allele be represented? _____ c. How would the albinism allele be represented? _____ d. How would the allele for widow’s peak be represented? _____ e. How would the allele for smooth hairline be represented? _____ 4. If a homozygous normal pigmented person with a smooth hairline married an albino who was homozygous for widow’s peak, what would be the genotype and phenotype of their offspring? Parental phenotypes: Parental genotypes: Parental gametes: Offspring genotype: Offspring phenotype: normal pigmented, smooth hairline X albino, widow’s peak ____________ X ___________ _______ _______ __________ ___________________________________ 5. If one of the above offspring married an albino with smooth hairline, what would be the possible genotypes and phenotypes of their offspring? Parental phenotypes: Parental genotypes: Parental gametes: ______________________________ X albino, smooth hairline ____________ X ___________ _____ _____ _____ _____ _____ Offspring Phenotypes Page 119 6. In radishes, the shape may be long or round or oval. Oval is the blended form between the long and round forms and is due to incomplete dominance. a. How would the long allele be represented? ________ b. How would the round allele be represented? ________ c. To be long, the organism would have to be homozygous long. What would be the genotype of the plant that would produce long radishes? __________ d. To be round, the organism would have to be homozygous round. What would be the genotype of the plant that would produce round radishes? __________ e. To be oval, an organism would have to be heterozygous. What would be the genotype of the plant that would produce oval radishes? _______ f. Fill in the Punnett square to show the cross between two plants that produce oval radishes. g. What is the genotypic ratio of the offspring in the above Punnett square? ____________________________________________ h. What is the phenotypic ratio of the offspring in the above Punnett square? ____________________________________________ 7. A couple come into your office for genetic counseling. They want to know what their chances would be of having a child with sickle cell anemia. The husband has no known cases for sickle cell anemia in his family and tests negative for the marker for sickle cell. The wife has a cousin with sickle cell trait and she, herself, tests positive for sickle cell trait. a. What is the husband’s genotype? __________ b. What is the wife’s genotype? _________ c. Fill in the Punnett square to show the possible genotypes of their children. d. What is the chance of this couple having a child with: normal RBC? ________ sickle cell trait? _________ sickle cell anemia? _________ Page 120 8. A husband and wife want to know what blood type(s) their children could have. They are tested; the man has blood type A and the woman has blood type AB. a. What is/are the possible genotype(s) for the man? _____________________ b. What is/are the possible genotype(s) for the woman? _____________________ c. Draw Punnett squares to figure out the possible genotypes their children might have. d. What blood type(s) could their children have? ________________________________ 9. The gene for color vision is sex-linked; that is, it is located on the X sex chromosome. a. What are the sex chromosomes for a female? _________ b. What are the sex chromosomes for a male? _________ c. How many genes for color vision do females have? ________ d. How many genes for color vision do males have? ________ 10. A woman who is a carrier for red-green color blindness marries a man who is color blind. a. What is her genotype? _____________ b. What is his genotype? ____________ c. Fill in the Punnett square to show the possible genotypes their children might have. d. What is the probability of this couple having a: child with normal color vision? ________ child that is color blind? ________ color blind son? __________ color blind daughter? _________ daughter who is a carrier for color blindness? __________ Page 121 Topic: Beyond Mendel Outine of Topics I) ____________________________________ II) ____________________________________ III) ____________________________________ IV) ____________________________________ V) ____________________________________ VI) ____________________________________ VII) ____________________________________ VIII) ____________________________________ I. Mutations Definition: A _________________ in the genetic material (__ __ __ or __ __ __) of a cell - ________________: If it occurs in __________ cells, it _______ be _________________ _____ to next generation - _______-________: If it occurs in ________________, it ______ be passed on to next generation 2 Types of Mutations in Genes 1. ___________________ mutation Affects ____ ____________________ (One nucleotide is ____________________ by another) Point Mutation _________ types of point mutations a) _____________ mutations: code for a different ________ __________ (ex. sickle-cell hemoglobin) – left diagram b) _____________ mutations: code for the __________ amino acid c) _____________ mutaions: code for a _______ _____________. Frameshift Mutation 2. ___________________ mutation: An ____________ or ________________ that shifts the triplet code _____________ frame a) Example of Insertion: TACGCATGGAATACC New sequence? Page 122 b) Example of a deletion: THE FAT CAT ATE THE RAT New sequence? Mutations in Chromosomes 1. __________________: A _______________ of the chromosome is _________________ (not just ____ nuclotide) 2. __________________: A segment of the chromosome is ____________________ 3. __________________: A segment within a chromosome is __________________. 4. __________________: A segment from one chromosome _________ to another __________________ chromosome II. Linked Genes If genes are “linked”,this means they are ____________ on the _______________ ___________________________. The linked genes are most likely ____________ ________________ and will _____undergo Mendel’s Law of , unless _________ over ____________________ the linked genes III. Gene Mapping Genes that are ______________ together on the same chromosome are _______ likely to cross over, therefore, _______________. Genes that are ____________ apart on the same chromosome are __________likely to cross over and segregate IV. Sex-Linkage or (X-linked) Genes that are on ______________chromosomes will _____________ _______________ independently When a gene is found on the ___ chromosome, it is considered ___-__________________. How are X chromosomes different from the Y chromosome? Explain how a gene can exist on the X chromosome without existing on the Y chromosome. Page 123 When genes are sex-linked, we include the X and Y as part of their genotype. For example, the allele for red eye in fruit flies is not “R” but is written as _____. How would you write the allele for white eye in fruit flies? You work in a fruit fly lab and you cross a heterozygote red-eye female with a red-eye male. Predict the F1 offspring using a punnett square. What is the phenotypic ratio? Phenotypic Ratio: V. Polygenic Traits VI. Non-disjunction Disorders Definition: Traits controlled by ______ or _______ _____________ Examples: ____________ _____________, _______________ Definition: When members of homologous chromosomes fail to ___________________during ______________ – or – when _______________ ______________ fail to ____________________ during __________________. Examples:_______________ Syndrome, _______________ Syndrome, _______________ Syndrome VII. Prenatal Diagnosis Using 1. Amniocentisis Karyotypes In your own words, explain the 2 ways karyotypes can be created to diagnose diseases in a fetus 2. Chorionic Villus Sampling (CVS) Page 124 VIII. Pedigree A pedigree is a _______________ of the ____________ _______________ of family over several ________________. Create a Legend If A = a= Determine if the pedigree chart shows an autosomal or X-linked disease. a. If most of the ___________ in the pedigree are affected the disorder is . Interpreting a Pedigree Chart b. If it is a 50/50 ratio between ____ and __________ the disorder is . Determine whether the disorder is dominant or recessive. a. If the disorder is _______________, ___ of the ______________ ______ have the ______________. b. If the disorder is _______________, ______________ parent has to have the disorder because they can be ______________________. Page 125 WEXLER'S SEARCH FOR THE HUNTINGTON'S GENE The year was 1979, and Congress has just issued you the funding to study Huntington's disease - a disorder afflicting more than 50,000 Americans. Very little was known about the inheritance of Huntington's, but Dr. Nancy Wexler (whose mother died of it) knew about the incredibly high rate of the disease around a place called Lake Maracaibo, Venezuela. Here, you'll be a part of a team sent to Lake Maracaibo to study a large family (of more than 5,000 members!), and report your findings. The family spans five generations. It is your job (as it was hers) to pedigree the family and see what's going on here. Below is a fax that has arrived from Lake Maracaibo... To: Dr. _________________, Foothill University, Ventura, California From: Huntington's research team, Lake Maracaibo , Venezuela Dear Scientists, What follows are the results of our interviews with 38 members of the Gonzales family. See what you can make of it. Sincerely. The team Generation V: Luis, son of Zelda and Ramon. AFFLICTED Generation IV: Ramon, son of Ricardo and Lydia. AFFLICTED Zelda, married to Ramon. HEALTHY Felipe, brother of Ramon. AFFLICTED Juan, son of Miguel and Letty. AFFLICTED Cira, daughter of Miguel and Letty. HEALTHY Roberto, son of Miguel and Letty. HEALTHY Nora, daughter of Jesus and Margarita, AFFLICTED Alejandro, son of Pedro and Beatriz. AFFLICTED Delia, daughter of Dano and Andrea. AFFLICTED Tio, son of Dano and Andrea. AFFLICTED Maria, daughter of David and Guadelupe. AFFLICTED Nariza, daughter of David and Guadelupe. AFFLICTED Generation III: Lydia, daughter of Carlos and Imelda. AFFLICTED Ricardo, married to Lydia. HEALTHY Helga, daughter of Carlos and Imelda. HEALTHY Page 126 Letty, daughter of Carlos and Imelda. AFFLICTED Miguel, married to Letty. HEALTHY Margarita, daughter of Carlos and Imelda. AFFLICTED Jesus, married to Margarita. HEALTHY Beatriz, daughter of Carlos and Imelda. AFFLICTED Pedro, married to Beatriz. HEALTHY Juanita, daughter Javier and Bonita. AFFLICTED Benito, son of Javier and Bonita. HEALTHY Dano, son of Chito and Chelita. AFFLICTED Andrea, wife of Dano. HEALTHY David, son of Chito and Chelita. AFFLICTED Guadelupe, wife of David. HEALTHY Horatio, son of Chito and Chelita. HEALTHY Lucio, son of Chito and Chelita. HEALTHY Generation II: Imelda, daugher of Rigo and Esmerelda. AFFLICTED Carlos, married to Imelda. HEALTHY Javier, son of Rigo and Esmerelda. AFFLICTED Bonita, married to Javier. HEALTHY Chito, son of Rigo and Esmerelda. AFFLICTED Chelita, married to Chito. HEALTHY Generation I: Rigo. AFFLICTED Esmerelda. HEALTHY Page 127 Page 128 Genetics Unit II: Mendelian Genetics The California State Standards I have come to use and understand are: How to predict the probable outcome of phenotypes in a genetic cross from the genotypes of the parents and mode of inheritance (autosomal or X-linked, dominant or recessive). The genetic basis for Mendel's laws of segregation and independent assortment. How to predict the probable mode of inheritance from a pedigree diagram showing phenotypes. Page 129