362 | P a g e Genetics Unit Cover Page (see guidelines on page 21) 363 | P a g e Genetics Unit Front Page 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: Genetics, allele, dominant, recessive, homozygous, heterozygous, genotype, phenotype, law of segregation, hybrid, and law of independent assortment, carrier, pedigree, incomplete dominance, co-dominance, multiple alleles, epistasis, sex chromosome, autosome, sex-linked trait, polygenic trait The assignments I will have completed by the end of this unit are: Genetics Facts and Fallacies 364 | P a g e 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 make-up 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.DNA Technology Notes 365 | P a g e Mendelian Genetics Notes 366 | P a g e Mendelian Genetics Notes What is heredity? Explain the 19th century “Blending Theory”. Each parent contributed “factors” that were _____________________in the offspring What was the problem with this theory? All individuals of a population would eventually look ______________________________. Once blended, __________________would never _________________ and show up in _________________generations. Who was Gregor Mendel (1822 – 1884)? Established the ____________________ theory of heredity by studying ___________ plants In which way did he follow the scientific method? He developed __________ lines and kept good data by _______________ results and taking notes Why did Mendel study pea plants? 1. They are normally _________________________, but can be _______________________________. 2. They have several _________________________ that are easy to distinguish Ex. ________________ vs. ______________ ________________ vs. ______________ What did Mendel notice about offspring when he cross-pollinated a purple flower with a white flower? Explain why after watching the video clip 367 | P a g e Law of Segregation Notes Law of Segregation: One version of each gene is inherited from each parent or or __ = widow’s peak __ = no widow’s peak 368 | P a g e Law of Segregation Notes 1. Law of __________________________ a. Factors (___________) for a particular trait occur in ________________ b. For each trait, an organism inherits two genes, one from What is the 1st Law of Segregation? _________________________________. c. _____________________________alleles mask _____________________________ones Exception 1: _________________________ Exception 2: _________________________ d. Two alleles for each trait __________________ (separate) during gamete production 1. Each individual is _______________________ - Diploid: Containing a ________________ - set of Explain the difference between diploid and haploid. chromosomes (__________) 2. Each gamete is ____________________ - Gamete: ______________ cell (egg or sperm) - Haploid: Having a _____________ - set of chromosomes (_______) 369 | P a g e Dominant Alleles Mask Recessive Alleles P (_____________________) Generation _____________________-breeding parents (PP x pp) F1 ( _______________ Filial) Generation ____________________Offspring (______) F2 (2nd ________________) Generation What is the F2 ratio? ________:224 3:_______ Homozygous: _______ alleles Heterozygous: _______ alleles 370 | P a g e Dominant Alleles Mask Recessive Alleles P Generation Phenotype Genotype Gametes F1 Generation Phenotype Genotype F2 Generation What is the Genotypic Ratio of the F2 Generation? What is the Phenotypic Ratio of the F2 Generation? Gametes ___: ___: ___ ___: ___ Summary: How do you set up a Punnett Square? 371 | P a g e Got Game ? Each of you are gametes – or individual alleles – for a trait. Your single letter can be combined with another single letter (i.e., Hh) to form a genotype. S Sharp Teeth H Hair F Fuzzy ears s Dull Teeth h Bald f Hairless ears G Green Skin E Big Eyes B Butt chin g Red skin e Little eyes b No butt chin N Big nose P Potato feet C Cat pupils in eyes n Little nose p Non-potato feet c Round pupils in eyes You will observe a series of faces on the powerpoint, and come to the front of the classroom if you think you have the right genotype to match the phenotype shown. Use the chart above to help you define each allele. Make sure to find the corresponding allele for the trait you represent! Questions Answer these questions after completing the activity. 1. What are the alleles for eye size? and 2. What genotypes represent Green skin? and 3. What genotype represents non-potato feet? 4. If you have two bald parents, what are the chances that the offspring will be bald? 5. You have a parent with no butt-chin who mates with a parent who is homozygous dominant with a butt-chin, what would the offspring have for a chin? 372 | P a g e How do you set up a Punnett Square? Heterozygous short hair (____)_ X heterozygous short hair (____) Genotypic Ratio Phenotypic Ratio Sometimes it may be easier to set up your Punnett Square in a straight orientation, instead of in at a diagonal. 373 | P a g e Mono-hybrid Crosses (One-Trait) Group Practice Complete these genetics problems with your table group. Your teacher will reveal the correct answers before your group proceeds to the next problem. In the space provided, record your work for each genetics problem to keep as references. Predict the offspring from the cross of a purple homozygous plant and a green plant. What if the purple plant was heterozygous? How would the offspring be different? 374 | P a g e Mono-hybrid Crosses (One-Trait) Group Practice Complete these genetics problems with your table group. Your teacher will reveal the correct answers before your group proceeds to the next problem. In the space provided, record your work for each genetics problem to keep as references. Predict the offspring from the cross of a white hamster and a brown hamster if the brown hamster's mother was white. 375 | P a g e 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 376 | P a g e Human Genetics - Mendelian Inheritance 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 nondimpled trait. Your phenotype ________________________________ Your genotype(s) Nondimpled DD Dd dd Dimpled 377 | P a g e Human Genetics - Mendelian Inheritance 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 middigital hair is due to a dominant allele and the absence of mid-digital 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 378 | P a g e Human Genetics - Mendelian Inheritance 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 ____________________ 379 | P a g e 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 380 | P a g e Monohybrid Cross Worksheet Part B: Punnett Squares 12. Examine the following Punnett squares and circle those that are correct. D d A A d Dd dd A AA aa d Dd dd a Aa Aa A a D D d Dd DD a Aa aa d Dd Dd 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? 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 381 | P a g e Monohybrid Cross Worksheet 16. In guinea pigs, short hair, S, is dominant to long hair, s. Complete the following Punnett squares acording 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 ____ Lon 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 Phenotypes: 382 | P a g e Monohybrid Cross Worksheet 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 Phenotypes: F1 Phenotypes: 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 Phenotypes: 383 | P a g e Monohybrid Cross Worksheet 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. Man’s phenotype ________ Woman’s phenotype _________ Man’s genotype ________ Woman’s genotype _________ What is the probability that this couple will have a blue-eyed child? __________ 384 | P a g e Common Core Practice (Genetics): You are a geneticist charged with the responsibility of determining the genetics of a rare species of fish. This species of fish have two very different phenotypic traits. Some of the fish have scales that have a metallic rainbow sheen, and others of the same species have scales that are quite dull and gray. You count the fish population in an aquarium, and you find that about half (50%) of the fish in the P generation have that beautiful metallic sheen, yet the other half of the fish in the P generation have a dull sheen. When you breed two fish with the metallic sheen, you find that your F1 generation are 75% metallic, and 25% dull. Based on this information, what are the genotypes of the P generation? Explain your thoughts AND justify your thinking with Punnett Squares. 385 | P a g e Test Crosses: to determine an unknown genotype from a known phenotype. Dominant phenotype, unknown genotype: PP or Pp? What would your hypothesis be if the genotype was PP? Recessive phenotype, known genotype, pp What would your hypothesis be if the genotype was Pp? If PP, then all offspring will be If Pp, then ½ offspring will be _____________ _________________ and ½ offspring will be ____________ 386 | P a g e Test Crosses: How do you determine if a plant with a dominant phenotype was homozygous (PP) or heterozygous (Pp)? (Fill in the blanks, based on your own understanding of the powerpoint). In genetics, dominant alleles mask the expression of recessive alleles; however, there are two exceptions. What are they? You need to design a _______________ cross, by crossing the known genotype with a homozygous _______________ individual. If the offspring all have the dominant phenotype, then the original parent genotype is __________________ (ex. PP). If _______ of the offspring has a dominant phenotype and the other ________ of the offspring has a recessive phenotype, then the original parent genotype is _______________ (ex. Pp). Dominant alleles mask recessive ones, with two exceptions. - Exception 1: ________________________________________ - Exception 2: ________________________________________ 387 | P a g e Incomplete Dominance Exception to Dominant Alleles Masking Recessive Alleles Incomplete Dominance: Pink Snapdragons Use Root Letter “______” to designate incomplete dominance interaction R R C C and W W C C P Generation Phenotype(s): Red and White Gamete of Red flower Gamete of White flower F1 Generation R W C C Phenotype: _____________ F2 Generation Phenotypes: _____________ _____________ _____________ 388 | P a g e Incomplete and Co-Dominance Notes Incomplete Dominance: In incomplete dominance, how is the phenotype of the heterozygote expressed, using snapdragons as an example? (Fill in the blanks, based on your own understanding of the powerpoint). In incomplete dominance, a heterozygote’s phenotype is a “blend” of the two dominant genotypes. For example: - Co-dominance: (Fill in the blanks, based on your own understanding of the powerpoint). the only way a snapdragon can be “red” is if it has the following homozygous genotype: ___ ___ the only way a snapdragon can be “white” is if it has the following homozygous genotype: ___ ___ but if the snapdragon is a heterozygote, with the genotype ___ ___, then the snapdragon will be ____________. In co-dominance, both of the two dominant alleles are of ________ strength. Therefore, a heterozygote with both dominant alleles will express ________ alleles in its phenotype. However, if a heterozygote has a recessive allele (i), then the dominant allele will ____________ the recessive allele. - - For example, a person with a heterozygous blood type IAIB has both A and B antigens on the surface of their blood cells, and therefore has blood type __ __. But, a person with a heterozygous blood type IAi has only ___ antigens on the surface of his blood cells, and therefore has blood type __ . 389 | P a g e Co-Dominance Exception to Dominant Alleles Masking Recessive Alleles Co-dominance: Blood Types Use root letter “_____” for dominant alleles of equal strength and “______” for recessive. 390 | P a g e Dr. Seuss - Co-dominance and Incomplete Dominance Practice defining genotypes for the phenotypes listed in each set. Remember that the "blended" trait must always be heterozygous, displaying incomplete dominance, while two traits that both show equally may be examples of co-dominance. Use proper genotypic annotations, “C” for incomplete dominance, and “I” for Co-dominance. 1) Birds can be blue, white, or white with blue-tipped feathers. Genotypes: Co-dominant or Incomplete dominant? (Circle) 2) Flowers can be white, pink, or red. Genotypes: Co-dominant or Incomplete dominant? (Circle) 3) A Hoo can have curly hair, spiked hair, or a mix of both curly and spiked. Genotypes: Co-dominant or Incomplete dominant? (Circle) 4) A Sneech can be tall, medium, or short. Genotypes: Co-dominant or Incomplete dominant? (Circle) 5) A Bleexo can be spotted, black, or white. Genotypes: Co-dominant or Incomplete dominant? (Circle) 391 | P a g e Dr. Seuss - Co-dominance and Incomplete Dominance 6). In Smileys, eye shape can be starred, circular, or a circle with a star. Define the genotypes for the pictured phenotypes Genotype: ______________ Genotype: ______________ Genotype: ______________ 7. Show the cross between a star-eyed and a circle eyed. the genotypic ratio of the offspring? ____________ the phenotypic ratio? __________ 8. Show the cross between a circle-star eyed, and a circle What is What is eyed. What is the genotypic ratio of the offspring? ____________ What is the phenotypic ratio? __________ the cross between two circle-star eyed. 9. Show What is the genotypic ratio of the offspring? ____________ the phenotypic ratio? __________ What is 392 | P a g e Inheritance of Blood Types – Co-Dominance Practice 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 Possible Genotypes IAIA or IAi IBIB or IBi ii A I IB 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 IA i A B ii ii O AB A and O B and O A and B AB and A AB and B AB and O O and O 393 | P a g e Bikini Bottom: Incomplete Dominance SpongeBob loves growing flowers for his pal Sandy! Her favorite flowers, Poofkins, are found in red, blue, and purple. Use the information provided and your knowledge of incomplete dominance to complete each section below. 1. Write the correct genotype for each color if CR represents a red gene and CB represents a blue gene. Red - _____ Blue - ______ Purple - _____ 2. What would happen if SpongeBob crossed a Poofkin with red flowers with a Poofkin with blue flowers. Complete the Punnett square to determine the chances of each flower color. (a) Give the genotypes and phenotypes for the offspring. (b) How many of the plants would have red flowers? _____% (c) How many of the plants would have purple flowers? _____% (d) How many of the plants would have blue flowers? _____ % 3. What would happen if SpongeBob crossed two Poofkins with purple flowers? Complete the Punnett square to show the probability for each flower color. (a) Give the genotypes and phenotypes for the offspring. (b) How many of the plants would have red flowers? _____% (c) How many of the plants would have purple flowers? _____ % (d) How many of the plants would have blue flowers? _____ % 4. What would happen if SpongeBob crossed a Poofkin with purple flowers with a Poofkin with blue flowers? Complete the Punnett square to show the probability for plants with each flower color. (a) Give the genotypes and phenotypes for the offspring. (b) If SpongeBob planted 100 seeds from this cross, how many should heexpect to have of each color? Purple flowers - ______ Blue flowers - ______ Red flowers - ______ 394 | P a g e Bikini Bottom: Co-dominance SpongeBob and his pal Patrick love to go jellyfishing at Jellyfish Fields! The fields are home to a special type of green jellyfish known as Goobers and only really great jellyfishermen are lucky enough to catch some on every trip. Many of the jellyfish are yellow (IYIY or IYi) or blue (IBIB or i), but some end up yellow and blue as a result of co-dominance. Use this information to help you complete each section below. Some also end up colorless (ii). 5. What would happen if SpongeBob and Patrick crossed two “goobers” or yellow and blue jellyfish? Complete the Punnett square to help you determine the probability for each color of jellyfish. (a) Give the possible genotypes and phenotypes for the offspring. (b) What percentage of the offspring would be yellow? _____% (c) What percentage would be blue? _____ % (d) What percentage would be “goobers” _____ % 6. What would happen if they crossed a yellow homozygous jellyfish with a goober? Complete the Punnett square to help you determine the probability for each color of jellyfish. (a) Give the possible genotypes and phenotypes for the offspring. (b) What percentage of the offspring would be yellow? _____% (c) What percentage would be blue? _____ % (d) What percentage would be “goobers”? _____ % 7. What would happen if they crossed a blue heterozygous jellyfish with a yellow heterozygous jellyfish? Complete the Punnett square to help you answer the questions. If 100 jellyfish were produced from this cross, how many would you expect for each? Yellow - _____ Blue - _____ Goobers - ______ Colorless - _______ 8. What would happen if they crossed a blue heterozygous jellyfish with a goober? Complete the Punnett square to help you answer the questions. If 100 jellyfish were produced from this cross, how many would you expect for each? Yellow - _____ Blue - _____ Goobers - ______Colorless - ________ 395 | P a g e Mendel’s Law of Segregation and Law of Independent Assortment Law of Segregation Two alleles for each trait segregate (______________) during gamete production In what way does crossing over segregate alleles? In what way does Meiosis I and Meiosis II segregate alleles? Di-hybrid Crosses: An example of the Law of Independent Assortment 396 | P a g e Law of Independent Assortment and the Di-hybrid Cross This occurs in a process called meiosis: This occurs in a process called meiosis: Law of Segregation: 2nd What is Mendels’s Law of Independent Assortment? Specifically alleles shuffle and _________________________during “____________________ _________________,” (Prophase I) and Separation or segregation continues in Anaphase I and II If the genes are not connected, then they should segregate _____________________. The alleles are __________________ packaged into _________________gametes during meiosis. (For example, genes for seed shape and color were not inherited together.) How do you independently assort genes to determine the gametes for a two-trait cross? ________________________ was introduced as a tool to _____________ or determine the What was a significance of Mendel’s work? ______________ of an event. 397 | P a g e Di-hybrid Crosses (Two-Trait) Group Practice Complete these genetics problems with your table group. Your teacher will reveal the correct answers before your group proceeds to the next problem. In the space provided, record your work for each genetics problem to keep as references. 398 | P a g e Di-hybrid Crosses (Two-Trait) Group Practice Complete these genetics problems with your table group. Your teacher will reveal the correct answers before your group proceeds to the next problem. In the space provided, record your work for each genetics problem to keep as references. 399 | P a g e Di-hybrid Reading & Coloring 400 | P a g e Di-hybrid Reading & Coloring 401 | P a g e Bikini Bottom – Dihybrid Crosses Use the chart to identify the genotypes of the following traits: Trait Dominant Gene Recessive Gene Body Shape Squarepants (S) Roundpants (s) Body Color Yellow (Y) Blue (y) Eye Shape Round (R) Oval (r) Nose Style Long (L) Stubby (l) 1. Heterozygous round eyes, blue body ___________ 2. Hybrid eye shape, purebred roundpants ___________ 3. Purebred roundpants, heterozygous long nose ___________ 4. SpongeBob’s aunt, who is a roundpants, has a cute stubby nose. She has finally found the sponge of her dreams and is ready to settle down. Her fiancé always comments on how adorable her nose is (he says it reminds him of his mother’s – aww, how sweet!). They wonder what the chances are of that trait being passed on. Her fiancé is a purebred A. Identify the genotypes of the aunt and her fiancé. Aunt = Roundpants, Stubby Nose = ________ Fiancé = Purebred Squarepants, Long Nose = ________ B. What are the possible gamete combinations for each person? Aunt = ______________________________ Fiancé = ______________________________ C. What are the possible genotypes for their children? ______________________________________ 5. As we know, SpongeBob is heterozygous for his yellow body color and his squarepants, while his wife SpongeSusie is blue and has roundpants. Use this information to answer the following questions. A. Give the genotypes for each. SpongeBob = __________________ SpongeSusie = _______________ B. What are the possible gamete combinations for each person? SpongeBob = __________________ SpongeSusie = __________________ C. Complete the Punnett square: 402 | P a g e Bikini Bottom – Dihybrid Crosses 6. In starfish, pink body color (P) is dominant to orange (p), and thick eyebrows (T) are dominant over thin (t) ones. Patrick, who is heterozygous for body color but purebred for thick eyebrows, has met Patti, who is recessive for both traits. A. What is Patti’s phenotype? _______________________________ B. Is it possible for the new couple to have offspring that resemble their mother? Explain. C. Before Patrick commits to this relationship, he would like to guarantee that his offspring would have his thick eyebrows as he thinks they make him smarter! You need to provide evidence for or against the marriage with regards to eyebrows ONLY. 7. While Squidward’s family boasts about being a purebred line for dominant light blue skin color, they are also purebred for a less distinguished trait: the recessive trait of baldness. Lack of hair causes Squidward some self-esteem issues that he does not want his children to face. He would like to ensure that his offspring have hair AND with his blue skin color. What traits should he look for in a bride? Squidward Alleles: Skin Color: Blue = B, Green = b Hair: Hair = H, Bald = h A. Must she have hair? Explain. B. Must she be blue? Explain. C. Squidward has found a potential bride prospect with the green squid Octavia. While Octavia has hair, her father does not. Determine the chances of their child being blue and having hair. Squidward's Genotype = __________ Octavia's Genotype = __________ D. Use the genotypes above to complete the Punnett square below and then answer the questions. E. For which traits, if any, is it possible for their offspring to be purebred? What is the probability of their children being heterozygous for both traits? __________ 403 | P a g e 2 Types of Mutations in Genes Point mutations: Frame-shift mutations: (Fill in the inserted nucleotide with a different color) Frame-shift Insertions: Example of original DNA sequence: TAC-GCA-TGG-AAT-ACC What is the mRNA transcript? What is the amino acid sequence? How does the original DNA sequence change with an insertion? What is the new mRNA transcript? What is the new amino acid sequence? Frame-shift Deletions: Example of original sequence THE FAT CAT ATE THE RAT New sequence if the “H” in the first triplet gets deleted? 404 | P a g e Notes: Beyond Mendel (Small Scale) I) ____________________________________ II) ____________________________________ What topics are we studying beyond Mendel’s laws of segregation? III) ____________________________________ IV) ____________________________________ V) ____________________________________ VI) ____________________________________ VII)____________________________________ I. Mutations What is a mutation? 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 What is a point mutation? 1. ___________________ mutation Affects ____ ____________________ How many types of point mutations exist? (One nucleotide is ____________________ by another) _____________ 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 _________ _____________. 2. _____________________ mutation: An ______________ or __________________ that What is a frame shift mutation? shifts the triplet code _______________ frame 405 | P a g e 4 types of Mutations in Chromosomes Chromosomal Deletion: Chromosomal Duplication: Chromosomal Inversion: Chromosomal Translocation: 406 | P a g e Notes: Beyond Mendel – Chromosomal or Large Scale 1. ____________________: A _________________ of the chromosome is ___________________ (not just ______ nucleotide) What are the four types of chromosomal mutations? 2. ____________________: A segment of the chromosome is ______________________ 3. ____________________: A segment within a chromosome is ____________________. 4. ____________________: A segment from one chromosome ___________ to another ______________________________ chromosome If genes are “linked”,this means they are ______________ on the II. Linked Genes What are linked genes? _______________ ___________________________. The linked genes are most likely ____________ ________________ and will _________undergo Mendel’s Law of _______________________ ____________________, unless _____________ over ____________________ the linked genes. Genes that are __________________ together on the same chromosome are _________ likely to cross over, therefore, _________________. III. Gene Mapping What is gene mapping? Genes that are ______________ apart on the same chromosome are ______________likely to cross over and segregate Genes that are on ________________chromosomes will _______________ _________________ independently 407 | P a g e X-linked Group Practice 408 | P a g e Beyond Mendel: Sex-Linkage IV. Sex-Linkage or (X-linked) When a gene is found on the _____ chromosome, it is considered ______-_______________________. In your own words, explain how the X chromosome structurally differs from the Y chromosome? In your own words, explain how a gene can exist on the X chromosome without existing on the Y chromosome. How would you write the allele for When genes are sex-linked, we include the X and Y as part of their white eye in fruit flies? genotype. For example, the allele for red eye in fruit flies is not “R” but is written as ______. 409 | P a g e X-Linked Cross Practice Problems The normal female condition is a result of the chromosomal pairing XX, while the normal male condition is XY. Certain genes located on the X chromosome, not associated with female sex characteristics, cause sex-linked recessive traits. As a result, females must receive two recessive alleles to exhibit any particular characteristic associated with one of these genes, while males need only receive one allele. The reason for the male anomaly is that the Y chromosome does not carry versions of the same genes as the X chromosome. Consequently, only females can be true heterozygotes (one dominant allele and one recessive allele). 1. Hemophilia is a rare heredity human disease of the blood. The blood of individuals with this condition does not clot properly. Without the capacity for blood clotting, even a small cut can be lethal. In a marriage of two non- hemophiliac parents, a bleeder son is born. What are the probabilities of these parents giving birth to sons being bleeders, and to daughters being bleeders? Use (XH) for the normal “non-hemophiliac” allele and (Xh) for the hemophilia allele. XH Y Parents: Male = XHY; Female = __________ Probability that sons are bleeders: Probability that daughters are bleeders: 2. In humans colorblindness (Xb) is an example of a sex-linked recessive trait. In this problem, a male with colorblindness marries a female who is not colorblind but carries the (Xb) allele. Using a Punnett square, determine the genotypic and phenotypic probabilities for their potential offspring. Genotypes and genotypic probability of offspring: Phenotypes and phenotypic probability of offspring: 3. In fruit flies red eye color (XR) is dominant to white eyes (Xr). In a cross between two flies, 50% of the male and 50% of the female offspring had red eyes. The other half of the males and females had white eyes. What are the phenotype, and all possible genotypes, of the offspring? What are the genotypes and phenotypes of the parents? Possible genotypes of offspring: Genotypes of parents: Phenotypes of parents: 410 | P a g e X-Linked and Co-Dominant Genetics in the Calico Cat Calico is a coat color found in cats, which is caused by a SEX-LINKED, CODOMINANT alleles. B = black R = orange, and BR = calico. The following genotypes are possible: Female cats can be black XBXB, orange XRXR, or calico XBXR Male cats can be black XBY or orange XRY Show each of the crosses below and include the phenotypic ratios of the offspring. 1. A black male crossed with an orange female 2. An orange male crossed with a calico female 3. A black male crossed with a black female 411 | P a g e X-Linked and Co-Dominant Genetics in the Calico Cat 4. An orange male crossed with an orange female 5. A black male crossed with a calico female 6. **If you are a cat breeder, what type of parents should you choose to have the MOST number of calico kittens? 412 | P a g e How Are Traits on Sex Chromosomes Inherited? Abstract:___________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ ___________________________________________________________________ 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 413 | P a g e How Are Traits on Sex Chromosomes Inherited? 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. 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. XH Y Coin 1 Male XH Xh Coin 2 Female 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. On Table 1, make a tally mark 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 above. 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 XHY X hY Observed Offspring = 20 Observed Totals = 20 Expected Offspring Number 414 | P a g e How Are Traits on Sex Chromosomes Inherited? 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. 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. Xh Coin 1 Male Y XH Xh Coin 2 Female 2. Place both coins in cupped hands. Shake the coins and then drop them on your desktop. 3. Read the combination of letters that appears. This combination represents the genotype observed in an offspring of these parents. 4. On table 2 below, make a tally mark 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 above. 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 2: Offspring of XhY Father and XHXh Mother Gene Combinations XHXH XHXh XhXh XHY X hY Observed Offspring = 20 Observed Totals = 20 Expected Offspring Number 415 | P a g e How Are Traits on Sex Chromosomes Inherited? 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. Xb Coin 1 Male Y XB XB Coin 2 Female 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 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 above. 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 3: Offspring of XbY Father and XBXB Mother Gene Combinations XBXB XBXb XbXb XBY XbY Observed Offspring = 20 Observed Totals = 20 Expected Offspring 416 | P a g e How Are Traits on Sex Chromosomes Inherited? Family 4: Offspring of parents who are normal but the mother is heterozygous. 1. Find the following coins in your plastic bag. 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. XB Y Coin 1 Male XB Xb Coin 2 Female 2. Place both coins in cupped hands. Shake the coins and then drop them on 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 XBY XbY Observed Offspring = 20 Observed Totals = 20 Expected Offspring Number 417 | P a g e How Are Traits on Sex Chromosomes Inherited? 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 _______ _________ 418 | P a g e How Are Traits on Sex Chromosomes Inherited? 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? _______________________ 419 | P a g e Sex Linkage Reading & Coloring 420 | P a g e Sex Linkage Reading & Coloring 421 | P a g e Polygenic Traits Histograph of All Students in Biology Class Non-Disjunction Disorders: (Label the normal and abnormal gametes, as shown in lecture) 422 | P a g e Beyond Mendel Notes: Polygenic Traits & NonDisjunction V. Polygenic Traits What is a polygenic trait? Definition: Traits controlled by ____________ or _______________ _____________ Examples: ____________ _____________, _______________ Definition: When members of homologous chromosomes fail to ___________________during ______________ VI. Non-disjunction Disorders What are non-disjunction disorders and how do they occur? – or – when _______________ ____________________ fail to ____________________ during __________________. Examples:_______________ Syndrome, _______________ Syndrome, _______________ Syndrome VII. Prenatal Diagnosis Using Karyotypes In your own words, explain the 2 ways karyotypes can be created to diagnose diseases in a fetus. 1. Amniocentesis 2. Chorionic Villus Sampling (CVS 423 | P a g e Making Faces 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? 424 | P a g e 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 on the question sheet to your left. 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. 425 | P a g e Making Faces Proud parents of _________________________________ (name of child) Gender____________ Parents __________________________________ and __________________________________ Birthdate ____________________________ Draw your child’s face here: 426 | P a g e Making Faces Data Table Trait No. Trait 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 30 Hair Color Gene from Gene from Mother Father Genotype Phenotype 427 | P a g e Genetic Disorders Brochures You are assigned one of the following genetic disorders. Highlight or circle your assignment given to you by your teacher. 1. Color Blindness 2. Klinefelter’s syndrome 3. Cystic Fibrosis 4. Marfan’s Syndrome 5. Down’s Syndrome 6. Patau’s Syndrome 7. Duchenne Muscular Dystrophy 8. Phenylketonuria 9. Edward’s Syndrome 10. Sickle Cell Anemia 11. Fragile X Syndrome 12. Tay-Sachs Disease 13. Hemophilia 14. Turner’s Syndrome 15. Huntington’s Disease 16. Werner’s Syndrome You will work alone on this project. If you and a classmate is assigned to the same disease, you may collaborate during your research, but you must each complete and design your own, unique brochure. You will be creating a medical brochure, like the kind you would typically find in a doctor’s office. In your brochure, you must address the following questions and be thorough with your information: 1. What is the disorder? Provide an overall description or definition of the disease and some history or background about the disease, such as its discovery. 2. How does this human genetic disorder occur? If inheritance is involved, is the trait dominant or recessive? Is this disorder sex-linked or is it autosomal? If this is a chromosomal disorder, what chromosome is involved? 3. How common is this disorder? What group(s) of people is primarily affected by the disease? Are there any risk factors that increase the likelihood of inheriting this disorder? 4. What are the symptoms? How does the disease effect the afflicted? What is the patient’s prognosis? 5. How are patients diagnosed? What tests are performed to determine to determine if an individual has this disorder? 6. Are there any other relevant information? 428 | P a g e Genetic Disorders Brochures In addition to addressing the essential questions, you must include the following technical and design elements: 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. Include a 1 – 2 sentence caption to explain the significance of the pedigree or karyotype, as it relates to your disease. Include pictures of people with the disorder. Be respectful of your subject and the audience. It must be interesting, creative, and tasteful. It must be easy to follow and understand – create a smooth sequence and include titles for the different sections. It must have at least three resources cited at the end of the brochure, using MLA format It must have a landscape orientation. It must have information on every fold of the brochure – each page should have at least half of the information in text. The font should be easy to read, not too large or too small. If in doubt, use the standard, “Times New Roman,” size “12.” Print your brochure so that it is double sided. Do not glue or fold two different pages of the brochure together. Printing in color and the use of special paper are optional. Extra credit may be awarded on brochures that are informative, free of errors, and have a professional design. Conventions of English: It is expected that you follow the standard conventions of English. Proof read your work to make sure you have proper spelling, grammar, punctuations. Read your brochure out loud to check for awkward sentences, wording, and phrasing. Do not plagiarize, as this will result in a zero score and disciplinary action. Printing: When you are ready to print, you will have to print only the first page, then slide that same paper back into your printer to print the 2nd page to get the double sided effect. You may need to try this a few times to make sure that the front and back pages of your brochure are oriented in the same direction. You may print the brochure up in black and white, but if you would like to print your brochure up in color, you must have access to your own color printer. 429 | P a g e How to Make a Brochure Using Microsoft Word First Page of Brochure Second Page of Brochure 430 | P a g e How to Make a Brochure Using Microsoft Word Microsoft word already has templates 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! Choose an appropriate style of template that will allow you to fold your brochure into thirds. The template will be on your screen. It is already filled with words (garbage mostly). You will have to delete those words and type in your own information. Be aware on how WORD orients the brochure on the screen versus what you actually see when you print it out. For example, the front cover of your brochure will be on the right panel of the 1st page. The back of your pamphlet is found on the middle panel of the 1st page. See figure 1 to your left. 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 left panel of 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 middle panel or 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. Use MLA format, as taught in your English class. The right panel or 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 left panel of 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 middle panel or 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 right panel or 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. For inherited disorders, discuss if the disorder is sexlinked, autosomal, dominant or recessive. If it is a chromosomal abnormality, which chromosome is it? 431 | P a g e Genetic Disorder How is it inherited? What are the symptoms/ What’s the prognosis? Klinefelter Syndrome Down Syndrome Edward Syndrome Fragile X Syndrome Duchenne Muscular Dystrophy Huntington’s Disease Patau Syndrome 432 | P a g e Genetic Disorder How is it inherited? What are the symptoms/ What’s the prognosis? Turner Syndrome Hemophilia Sickle Cell Anemia Color Blindness Phenylketonuria (PKU) Marfan Syndrome Tay Sachs Disease Cystic Fibrosis 433 | P a g e Pedigrees If A = a= Create a Legend: 434 | P a g e Beyond Mendel Notes: Pedigrees VIII. Pedigree What is a pedigree? How do you determine if a pedigree chart shows an autosomal or X-linked disease? A pedigree is a _______________ of the ____________________ _______________________ of family over several ________________. 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 . b. If it is a 50/50 ratio between _______ and ____________ the disorder is _ . Determine whether the disorder is dominant or recessive. How do you determine if a pedigree chart shows a dominant or recessive disease? a. If the disorder is _______________, _____ of the ______________ ____________ have the ______________. b. If the disorder is ________________, _______________ parent has to have the disorder because they can be _______________________. Summary of “Beyond Mendel” notes (pages: ________________) 435 | P a g e WEXLER'S Research: Gonzales Family Pedigree 436 | P a g e 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 437 | P a g e WEXLER'S SEARCH FOR THE HUNTINGTON'S GENE Generation III: Lydia, daughter of Carlos and Imelda. AFFLICTED Ricardo, married to Lydia. HEALTHY Helga, daughter of Carlos and Imelda. HEALTHY 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 438 | P a g e 439 | P a g e DNA Technology Notes 440 | P a g e DNA Technology Notes What is selective breeding? What is genetic engineering? What is a genome? What are restriction enzymes and how are they used in genetic engineering? What is gel electrophoresis and how does it work? What is recombinant DNA? The process of selecting and breeding plants or animals with specific desired traits. Genetic engineering is a technology that involves manipulating the DNA of one organism in order to insert exogenous DNA (DNA from another organism). An organism’s genome is the total DNA present in the nucleus of each cell. In order to study a specific gene, that gene must be isolated from the rest of the genome. Restriction enzymes are proteins that bind to specific DNA sequences and cleave the DNA within that sequence. Some types of bacteria contain restriction enzymes as a defense against viruses. When the restriction enzyme cleaves genomic DNA, it creates fragments of different sizes that are unique to every individual. Gel electrophoresis is a way to separate DNA fragments that have been cut by a restriction enzyme. 1. DNA fragments are loaded into the negatively charged end of a gel. 2. Electric current is applied, and DNA moves through the gel towards the positive end of the gel. 3. Because the smaller fragments move faster and farther, a unique pattern is created based on the size of the DNA fragments. Recombinant DNA is a molecule made of DNA from different sources. Using restriction enzymes, DNA fragments can be cut and inserted into viral plasmids. These viral plasmids can be inserted into living bacteria through transformation. 441 | P a g e DNA Fingerprinting Coloring & Reading 442 | P a g e DNA Fingerprinting Coloring & Reading 443 | P a g e Genetic Engineering Review Use Chapter 13, sections 2 and 3 (pages 363 – 379), to help you with this section. Vocabulary Review Word Bank A. B. C. D. E. F. G. H. DNA insertion cloning DNA fingerprint DNA sequencing genetic engineering human genome Human Genome Project PCR I. J. K. L. M. N. O. plasmid recombinant DNA restriction enzyme inbreeding sticky ends mutagenesis hybrid Matching ____ 1. Scientific effort to determine the approximately 3 billion nucleotide base sequences of every human gene ____ 2. Process of moving genes from the chromosomes of one organism to those of another ____ 3. Process of making multiple copies of a DNA ____ 4. Increasing the mutation rate ____ 5. A molecule formed when fragments of DNA from 2 or more different organisms are spliced together ____ 6. Circular pieces of bacterial DNA ____ 7. The process of inserting DNA into another organism, usually bacteria. ____ 8. Technique of identifying the nitrogen base sequence in a DNA sample ____ 9. Entire collection of genes within human cells ____ 10. These organisms are often hardier than their parents ____ 11. Growing large numbers of identical cells from one cell ____ 12. Image of dark bands that reflects the composition of an individual’s DNA molecule ____ 13. Used to cut DNA at a specific site because it recognizes and binds to a specific sequence of DNA nucleotides ____ 14. Short sequence of unpaired DNA nitrogen bases created when restriction enzymes cleave DNA ____ 15. Crossing individuals with similar characteristic 444 | P a g e Genetic Engineering Review Short Answer 1. Why might farmers want to grow certain genetically engineered plants? 2. How could information obtained from the Human Genome Project be useful? Recombinant DNA 1. Number the following statements to show the steps scientists follow to make a recombinant DNA molecule. 2. 3. ____ a. Insert the desired gene into a plasmid ____ b. Bacteria begin producing the desired protein ____ c. Identify the desired gene ____ d. The recombinant plasmid is taken up by a host bacterium ____ e. Isolate the desired gene Label the parts of the following diagrams. Shade the bacterial plasmid DNA and leave the insulin genes unshaded. What are some of the products of recombinant DNA technology? ______________________ ____________________________________________________________________________________________________________ ____________________________________________________________________________________________________________ 445 | P a g e Restriction Enzymes and Gel Electrophoresis Materials 9 Red pop-it beads 8 Yellow pop-it beads 8 Green pop-it beads 10 Blue pop-it beads Colored pencils Procedure 1. Use the diagram above as a reference to construct a string of pop-it beads with the same color pattern. 2. Use “Enzyme 1” to fragment the strand of DNA (pop-it beads) based on the ligation information (“Cuts Between”) provided on the table to the right. 3. Use the colored pencils to draw the fragment sizes in the appropriate cell of the table. Use the table on your student worksheet, as this will be turned in. 4. Line up the fragments as they would separate if run through an electrophoresis gel. Use the colored pencils to draw them in the appropriate “Gel Banding Pattern” cell of your table. 5. Repeat this procedure for each enzyme (Note: Enzyme 2 and 3 means that first, enzyme 2 fragments the DNA, then enzyme 3 cuts the fragments made by enzyme 2.) 446 | P a g e Restriction Enzymes and Gel Electrophoresis Cuts Between Enzyme 1 Blue and Blue Enzyme 2 Yellow and Blue Enzyme 3 Red and Blue Fragment Size Gel Banding Pattern Or Blue and Red Enzyme 4 Green and Yellow Enzyme 2 & 3 Yellow and Blue And Red and Blue Or Blue and Red 1. Why did we use four colors of beads? What do you think they represented? 2. How do molecules of varying sizes separate in electrophoresis? What is the purpose of the gel? What about the electricity 447 | P a g e DNA Fingerprints Assume that a crime has been committed, and after investigative police work, two suspects are apprehended. Hair specimens that are different from the victims were found at the crime scene. The DNA from the hair root cells was extracted and purified. This represents the unknown DNA sample. DNA was also extracted from samples obtained from the two suspects. These DNA samples were each cleaved with the restriction enzymes Eco RI and Hin DIII in separate reactions. The objective is to analyze and match the DNA fragment patterns after agarose gel electrophoresis and determine if Suspect 1 or Suspect 2 was at the crime scene. Key: Lane A Lane B Lane C Lane D Lane E Lane F – – – – – – Crime scene sample cut with EcoRI Crime scene sample cut with Hin DIII Suspect 1 sample cut with Eco RI Suspect 1 sample cut with Hin DIII Suspect 2 sample cut with Eco RI Suspect 2 sample cut with Hind DIII Agarose Gel Electrophoresis Results: A A B B C C D D E E F F 448 | P a g e DNA Fingerprints 1. Using the key for the contents of each lane, determine which suspect – #1 or #2 – was at the crime scene? _____ Use evidence from the results to explain and support your answer: 2. Could the DNA samples have been distinguished from one another if only the restriction enzyme Eco RI had been used? ______ Explain your answer. 449 | P a g e Genetics Unit Student Concept Cards (glue your envelope and cards here) 450 | P a g e Genetics Unit Concept Map (glue your envelope and cards here) 451 | P a g e 452 | P a g e Name: Period: Parent/ Significant Adult Review Page Student Portion Unit Summary (write a summary of the past unit using 5-7 sentences): Explain your favorite assignment in this unit: Adult Portion Dear Parent/ Significant Adult: This Interactive Notebook represents your student’s learning to date and should contain the work your student has completed. Please take some time to look at the unit your student just completed, read his/ her reflection and respond to the following Ask your child to teach you some concept about genetics. Write down three facts that you learned from your child. What was the most impressive assignment that your child completed, and why? Parent/ Significant Adult Signature: Intentionally Left Blank 453 | P a g e 454 | P a g e Genetics Review: Di-hybrid Cross, Incomplete Dominance, Co-dominance, and X-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: normal pigmented, smooth hairline X albino, widow’s peak Parental genotypes: Parental gametes: Offspring genotype: Offspring phenotype: ____________ X ___________ _______ _______ __________ ___________________________________ 455 | P a g e 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: _________________________ X albino, smooth hairline Parental genotypes: Parental gametes: ____________ X ___________ _____ _____ _____ _____ Offspring Genotpes _____ Offspring Phenotypes 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. 456 | P a g e 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? _________ 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. 457 | P a g e 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? _____________ 458 | P a g e 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? _________ 459 | P a g e Applied Genetics Duchene muscular dystrophy is a deadly disorder in which the muscles grow progressively weaker. The disease is caused by a recessive gene on the X-chromosome. The pedigree chart below illustrates the inheritance of this gene. Use the chart to answer the questions that follow. 1. Is Duchene muscular dystrophy more likely to occur in males or in females? Explain. 2. Individual H is a female with this disorder. Explain how she inherited this disease. 3. Individual K has this disorder, yet his father did not. Explain how this is genetically possible. 4. Individual G does not have the disease, yet his mother was a carrier and his father had the disease. Explain how this is possible. 460 | P a g e Genetics Unit Back Page 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. From DNA study Guide) Genetic Engineering 24. What is the Human genome? 25. The small ring of bacterial DNA is called? 26. Draw an example of recombinant DNA, using two different colors. Draw and label the plasmid portion of the recombinant with one color and draw and label the gene of interest with another color. 27. What is the function of restriction enzymes? 28. Explain the process of gel electrophoresis with respect to charge and size of DNA. 462 | P a g e Use the following diagram of DNA fragmentation patterns to answer the questions below the diagram. Lane 1: Lane 2: Lane 3: Lane 4: Child’s DNA fragmentation pattern Mother’s DNA fragmentation pattern Suspected father A’s fragmentation pattern Suspected father B’s fragmentation pattern 1 2 3 4 Bands a b c d e f g h 29. Which genes ido the mother and the child have in common? j 30. Which man is the father of the child? k 31. Sequence the process of genetic engineering in order. I. Bacteria begin to produce the desired protein. II. The recombinant plasmid is taken up by a host bacterium. III. Isolate the desired gene by cutting it with a restriction enzyme. IV. Identify the desired gene. V. Insert the desired gene into a plasmid DNA of bacterium.