Name: _________________________________ Unit 7: Genetics Part A: Fundamentals of Genetics Gregor Mendel o garden peas o heredity o genetics o P1 o F1 o F2 o dominant o recessive o hybrid Genotype Per. ______ Phenotype o homozygous o heterogyzous o alleles o Punnett squares o pollination: cross and self Principle of Dominance and Recessiveness Law of Segregation Law of Independent Assortment o multiple alleles o monohybrid crosses o dihybrid crosses Part B: Inheritance Pattern & Human Genetics 1. sex determination Thomas Hunt Morgan sex-linked genes linkage groups chromosome mapping mutation o chromosome deletion inversion translocation nondisjunction o gene point mutations substitutions sickle-cell anemia frame shift mutations 2. human genetics o pedigrees o Huntington’s Chorea multiple alleles polygenic traits sex-linked o colorblindness o hemophilia o Duchenne muscular dystrophy sex-influenced traits nondisjunction o Down Syndrome genetic screening/counseling o amniocentesis o PKU Part C: DNA Technology genetic engineering restriction enzymes plasmids transplanting genes recombinant DNA transgenic organisms DNA fingerprints gel electrophoresis human genome project genetically engineered vaccines and crops Part D: Gene Expression gene expression genome repressor proteins cell differentiation cancer o tumors benign malignant metastasis o carcinoma o sarcoma o lymphoma o leukemia causes of cancer o carcinogens o mutagens o oncogens o viruses Part E: Nucleic Acid & Protein Synthesis DNA chromosome nucleotide nitrogenous base o adenine ------ thymine o guanine ------ cytosine replication transcription RNA o o o mRNA tRNA rRNA codon protein synthesis o translation 1 Part A: Fundamentals of Genetics Gregor Mendel: Genetic Pioneer genetics = study of genes Gregor Mendel- Austrian Monk - identified 7 pairs of contrasting characteristics in pea plants Mendel's Experiments developed pure strains for each of the 14 characteristics by self-pollination (pollen from anther to stigma of same flower or plant) then, cross-pollinated parent plants = P1 generation first generation offspring = F1 generation second generation offspring = F2 generation Mendel's Results P1 green pods x yellow pods -----------> all green pods (F1) F1 green pods x green pods -----------> 3/4 green pods: 1/4 yellow pods Mendel got the same 3/4 to 1/4 ratio for each pair of pure traits that he tested Mendel’s Conclusions Principle of Dominance and Recessiveness = one factor in a pair may mask the other, preventing its expression Incomplete Dominance- Blending of dominant & recessive traits Co-dominance- expression of two dominant traits Law of Segregation & Recombination a pair of factors is segregated, or separated during the formation of gametes as a result of fertilization, alleles recombine. New allelic gene combinations are likely to be produced Law of Independent Assortment = factors are distributed to gametes independently of other factors - later found to be untrue where gene linkage is present Modern Look at Mendel's Work Mendel's factors = genes letters used to represent genes pairs: -capital letter for dominant gene -lower case letter for recessive gene ex. tallness vs. shortness T = tall gene t = short gene TT = tall tt = short Tt = tall 2 Genes and Appearance genotype = gene combination present ex. Tt, TT, tt phenotype = physical appearance due to gene action ex. tall, tall, short homozygous = both genes of pair chromosomes ex. TT, tt heterozygous = genes of pair chromosomes ex. Tt - also called a hybrid alleles = contrasting traits for same characteristic ex. tallness vs. shortness multiple alleles - traits with more than two alleles ex. blood type (A, B, O) - how many of these possible different genes can you inherit? 2 female gametes Punnett Squares and Probability show possible results of crosses X male gametes X XX X Y XX XY Practice: 1. cross a homozygous tall pea plant with a short pea plant. Key: T= tall genotype: 4Tt t= short phenotype: 4 tall 2. cross the hybrid F1’s from the above cross. XY T TT Tt T t T Tt Tt t t t Tt tt T Tt Tt genotype: 1TT: 2Tt: 1tt phenotype: 3 tall: 1 short 3. cross a heterozygous axial-flowered pea plant with a terminal flowered pea plant. key: A= axial a= terminal genotype: 2Aa: 2aa phenotype: 2 axial: 2 terminal A Aa Aa a a a aa aa 4. cross a homozygous, round-seeded pea plant with a heterozygous round-seeded pea plant. key: R= round r= wrinkled genotype: 2Rr: 2Rr phenotype: 4 round R r R RR Rr R RR Rr 5. black coat color is dominant over white coat color in guinea pigs. Cross a heterozygous black guinea pig with a genotype: 2Bb: 2bb white guinea pig. key: B= black phenotype: 2black: 2 white b= white 6. cross a constricted pod pea plant with a homozygous inflated pod pea plant. key: I= inflated genotype: 4Ii i= constricted phenotype: 4 inflated 7. how would you find out if a tall pea plant is homozygous or heterozygous? these are all monohybrid crosses key: T= tall t= short Cross with short plant to see if you get a short offspring t t B Bb Bb b b I Ii Ii i i T Tt Tt t tt tt b bb bb I Ii Ii 3 Crosses That Involve Two Traits = dihybrid cross ex. R = round r = wrinkled Y = yellow y = green cross pure round, yellow seeded pea plants with pure wrinkled green seeded pea plants: RRYY x rryy gametes = RY x ry F1 from above cross can produce four different gametes: RrYy x RrYy RY Ry rY ry Punnett square can be set up with 16 boxes Practice 1. One reason for Mendel’s success with genetic studies of garden peas was that he 1. used only hybrid pea plants 3. studied large numbers of offspring 2. used peas with large chromosomes 4. discovered the source of variations in pea plants. 2. Each member of a pair of genes found in the same position on homologous chromosomes is known as 1. an allele 2. a gamete 3. a chromatid 4. an autosome 3. Curly hair in human beings, white fur in guinea pigs, and needlelike spines on cactus all partly describes an organism’s 1. alleles 2. chromosomes 3. autosomes 4. phenotype 4. If one offspring is homozygous dominant and a second offspring is heterozygous for the same trait, the two offspring would most likely 1. have the same genotype 3. have the same phenotype 2. exhibit the recessive trait 4. have different chromosome numbers 5. A student crossed wrinkled seeded (rr) pea plants with round seeded (RR) pea plants. Only round seeds were produced in the resulting plants. This illustrates the principles of 1. independent assortment 2. dominance 3. segregation 4. incomplete dominance 6. A trait that is not visible in either parent appears in several offspring. Which genetic concept does this demonstrate? 1. linked genes 2. segregation 3. replication 4. sex determination 7. Sexually reproducing species show great variation than asexual reproducing species because of 1. lower rates of mutation 3. the occurrence of polyploidy 2. environmental changes 4. the recombination of alleles 8. Which statement describes how two organisms may show the same trait, yet have different genotypes for that phenotype? 1. One is homozygous dominant and the other is heterozygous. 2. Both are heterozygous for that trait. 3. One is homozygous dominant and the other homozygous recessive. 4. Both are homozygous for that dominant trait. 9. Two pea plants hybrid for a single trait produced 60 pea plants. Approximately how many of these pea plants are expected to exhibit the recessive trait? 1. 15 2. 30 3. 45 4. 60 10. In guinea pigs, the gene for black coat color is dominant over the gene for white coat color. In a cross between two hybrid black guinea pigs, what percentage of the offspring is likely to have the same coat color as the parents? 1. 25% 2. 50% 3. 75% 4. 100% 4 Genetics Crosses Practice 1. Write the genotypes for pea plants with the following phenotypes: a. homozygous tall TT b. short tt c. heterozygous tall Tt 2. Write the phenotypes of the pea plants with the following genotypes: a. Tt tall b. TT tall c. tt short 3. Write the genotypes for pea plants with the following phenotypes: a. heterozygous axial Aa b. homozygous axial AA c. terminal flowers aa 4. Write the phenotypes for the following genotypes: a. Aa axial b. AA axial c. aa terminal Keeping in mind the following crosses are examples of incomplete dominance, complete the following crosses: 5. Cross a red four o’clock flower with a pink four o’clock flower. R R r R RR RR Rr Rr F1 genotypes: 2RR: 2Rr phenotypes: 2red: 2 pink 6. Cross a white andalusian chicken with a black andalusian chicken. W w w W Ww Ww Ww Ww F1 genotypes: 4 Ww phenotypes: 4 blue 7. Cross two roan short-horned cattle. R R r r RR Rr Rr rr F1 genotypes: 1RR: 2Rr: 1rr phenotypes: 1 red: 2 roan: 1 white 5 Punnett Square Worksheet Complete the following monohybrid crosses: draw a Punnett square, list the ratio and describe the offspring. Be sure to remember that the capital letter is dominant. Example: A green pea plant (GG) is being crossed with a green pea plant (Gg) yellow is the recessive color. G G g GG Gg G Genotype= GG Gg Phenotype= 4 Green pea plants: 0 yellow pea plants G 1. A green pea plant (Gg) is crossed with a yellow pea plant (gg). genotype= 2Gg: 2gg phenotype= 2 green: 2 yellow 2. A tall plant (TT) is crossed with a tall plant (Tt). genotype= 2TT: 2Tt phenotype= 4 tall 2 GG: 2 Gg : 0 gg g g Gg gg g Gg gg T T T TT TT t Tt Tt T t Tt tt Tt tt 3. A tall plant (Tt) is crossed with a short plant (tt). t genotype= 2Tt: 2tt phenotype= 2 tall: 2 short t R 4. A red flower (Rr) is crossed with a white flower (rr). genotype= 2 Rr: 2 rr phenotype= 2 red: 2 white r Rr rr r Rr rr r r r rr rr r rr rr 5. A white flower (rr) is crossed with a white flower (rr). genotype= 4 rr phenotype= 4 white 6. A black chicken (BB) is crossed with a black chicken (BB). genotype= 4 BB phenotype= 4 black 6 r B B B BB BB B BB BB Punnett square problems continued Complete the following problems. List the parent genotypes, draw and fill in a Punnett square, and then list the offspring genotypes and phenotypes. 1. B b A homozygous dominant brown mouse is crossed with a heterozygous brown mouse (tan is the recessive color). B B BB BB Bb genotype= 2 BB: 2 Bb phenotype= 4 brown Bb 2. Two heterozygous white (brown fur is recessive) rabbits are crossed. W w WW W Ww w Ww genotype= 1WW: 2Ww: 1ww phenotype= 3 white: 1 brown ww 3. Two heterozygous red flowers (white flowers are recessive) are crossed. R R r r RR Rr genotype= 1RR: 2Rr: 1rr phenotype= 3 red: 1 white Rr rr 4. A homozygous tall plant is crossed with a heterozygous tall plant (short is the recessive size). T T t T TT TT Tt Tt genotype= 2 TT: 2Tt phenotype= 4 tall 5. A heterozygous white rabbit is crossed with a homozygous black rabbit. W w w w Ww ww Ww ww genotype= 2 Ww: 2 ww phenotype= 2 white: 2 black 7 Part B: Inheritance Patterns and Human Genetics 1. Chromosomes and Inheritance sex determination o Thomas Hunt Morgan o used Drosophila melanogaster = fruit flies o why did he use fruit flies? only 4 pairs of chromosomes they are very large & easy to see they breed fast o of 4 pairs of chromosomes, one pair different in males than in females females: two chromosomes identical males: one chromosome looked like female and the other was shorter and hook shaped o Morgan called these sex chromosomes XX (female) XY (male) Cross a male with a female and give genotype and phenotype ratios: X X X XX XX Y XY XY Are Chromosomes the Same in Male and Female? Chromosomes in Female and Male. X X X Y 1. How many chromosomes are in the body cells of a male fruit fly? (Note: the large dots are chromosomes, too.) ______________________________________________8_______________________________________ 2. How many chromosomes are in the body cells of a female fruit fly? 8 3. In the male fruit fly, how many of the pairs consist of two chromosomes that look alike? 3 4. In the female fruit fly, how many of the pairs consist of two chromosomes that look alike? 4 5. What names are given to each of the two unlike chromosomes in the male? XY 6. What is the name given to the two similar corresponding chromosomes in female? XX 8 How Sex Is Decided Complete the following statements. 1. The number of chromosomes in the body cells of a fruit fly is 8. 2. The male fruit fly has two sex chromosomes, called X and Y. 3. The female fruit fly has two sex chromosomes, called X and X. 4. A male fruit fly makes two kinds of sperm cells; one kind has the X chromosome, the other has theY. 5. The sex chromosome found in every egg is the X chromosome. 6. When an egg is fertilized, a female will result if the chromosome combination is XX. 7. A male will result if the chromosome combination is XY. 8. In any population, the proportion of males to females is about 50/50 . 9. The sex of the offspring is decided at the moment when the egg is fertilized. 10. The sex in humans and fruit flies that has unlike sex chromosomes is the male. Chromosome map: diagram showing the location of genes on a chromosome o the farther apart two genes are, the more likely they will be separated by crossing over Mutations: a change in DNA o Germ cell mutation: occurs in the organism’s gametes (sex cells); do not affect the organism; may be passed on to offspring o Somatic mutations: body cell mutations; will affect the organism; not passed on; two types: Chromosome Mutations: change structure of a chromosome or loss of entire chromosome deletion: loss of a piece of chromosome inversion: segment breaks off and reattaches in reverse order translocation: segment breaks off and attaches to another non-homologous chromosome non-disjunction: failure of a chromosomes to separate correctly ex. extra chromosome or lacks a chromosome Gene Mutations: change in DNA of a single gene point mutation: substitution, addition or deletion of 1 nucleotide of a codon substitution: one nucleotide replaced by a different nucleotide ex. sickle cell- T is substituted by A; causes defective hemoglobin; sickle shaped red blood cells frame shift mutation: occurs when an addition or deletion causes the shifting of the group of three making a codon 9 2. Human Genetics difficult to study. Why? We grow over very long period of time; harder to take care of; small amount of offspring. Pedigree analysis o pedigree: family record that shows how a trait is inherited over generations Genetic traits and disorders o Single-allele traits: Dominant: Huntington’s Disease: forgetfulness and irritability in 30’s – 40’s; loss of muscle control, spasms, mental illness, death Achondroplasia: dwarfism Polydactyly: many fingers and toes Cataracts: clouding of the lens of the eye Recessive: Albinism: lack of pigmentation in hair, skin, eyes Cystic Fibrosis: abnormal cellular secretions of thick mucus which accumulates in lungs Phenylketonuria (PKU): inability to metabolize phenylalanine in milk; PP and Pp = normal; pp= PKU build-up causes mental retardation babies tested; those with PKU not given phenylalanine in diet Tay-Sachs Disease: causes death by deteriorationfrom lack of enzyme to breakdown fatty deposits on nerve and brain cells o Multiple Alleles: traits controlled by 3 or more alleles of the same gene ABO blood groups controlled by 3 alleles: IA; IB; ii each person’s blood contains 2 of these alleles IA, IB are codominant (both expressed when together) and are both dominant to the i A type = IA IA; IAi B type = IB; IB i AB type = IA IB O type = ii Which cross could result in all four blood types in the offspring? Show results of cross below: IA i IA IB IB i 10 IB i IAi ii Pedigree Studies Pedigrees are not reserved for show dogs and race horses. All living things, including humans, have pedigrees. A pedigree is a diagram that shows the occurrence and appearance, or phenotype, of a particular genetic trait from one generation to the next in a family. Genotypes for individuals in a pedigree usually can be determined with an understanding of inheritance and probability. In this investigation, you will (a) Learn the meaning of all symbols and lines that are used in a pedigree. (b) Calculate expected genotypes for all individuals shown in pedigrees. Procedure Part A. Background information The pedigree in Figure 20-1 shows the pattern of the inheritance in a family for a specific trait. The trait being shown is earlobe shape. Geneticists recognize two general earlobe shapes, free lobes and attached lobes (Figure 202). The gene responsible for free lobes (E) is dominant over the gene for attached earlobes (e). In a pedigree, each generation is represented by a roman numeral. Each person in a generation is numbered. Thus, each person can be identified by a generation numeral and individual number. Males are represented by squares whereas females are represented by circles. Part B. Reading a Pedigree In Figure 20-1, person’s I-1 and I-2 are the parents. The line which connects them is called a marriage line. Person’s II-1, 2 and 3 are their children. The line which extends down from the marriage line is the children line. The children are placed left to right in order of their births. That is, the oldest child is always on the left. 1. What sex is the oldest child? female 2. What sex is the youngest child? male Using a different pedigree of the same family at a later time shows three generations. Figure 20-3 shows a son-in-law as well as a grandchild. Generation I may now be called grandparents. 3. Which person is the son-in-law? II-1 4. To who is he married? II-2 5. What sex is their child? female 11 Part C. Determining Genotypes from a Pedigree The value of a pedigree is that it can help predict the genes (genotype) of each person for a certain trait. All shaded symbols on a pedigree represent individuals who are homozygous recessive for the trait being studied. Therefore, person’s I-1 and II-2 have ee genotypes. They are the only two individuals who are homozygous recessive and show the recessive trait. They have attached earlobes. All un-shaded symbols represent individuals who have at least one dominant gene. These persons show the dominant trait. To predict the genotypes for each person in a pedigree, there are two rules you must follow. To determine the second gene for the persons who show the dominant trait, a Punnett square is used. In Figure 20-4, we already know that the grandfather (I-1) is ee, if the grandmother (I-2) were EE; could any ee children like (II-2) be produced? A Punnett square shows this combination to be impossible. Thus, the grandmother must be heterozygous of Ee. 6. (a) Do the following Punnett squares to show the possible outcomes of persons I-1 & I-2. (b) Can an Ee parent and an ee parent have Rule 1: Assign two recessive genes to any person on a pedigree whose symbol is shaded. (These persons show the recessive trait being studied.) Small letters are written below the person’s symbol. Rule 2: Assign one dominant gene to any person on a pedigree whose symbol is un-shaded. (These persons can show the dominant trait being studied.) A capital letter is written below the person’s symbol. These two rules allow one to predict some of the genes for the persons in a pedigree. Figure 20-4 shows the genes predicted by using these two rules. the results in generation II? yes (c) Can an EE parent and an ee parent have the results shown in Generation II? no 7. (a) Predict the second gene for person II-3. (Read the Punnett square.) e (b) Predict the second gene for persons II-4. e (c) Could child II-3 or II-4 be EE? no Explain. e from father 12 To predict the second gene for person II-1, a different method must be used, since he could be either EE or Ee. 8. (a) Do the following Punned squares to show the possible outcomes of persons II-1 & II-2. Examine the pedigree: (b) Can and EE person married to an ee person (II-2) have children with free earlobes? yes- all (c) Can an Ee person be married to an ee person have children with free earlobes? yes- 50% 9. (a) Which Punnett square, A, B, or C, would best fit this family? B (b) Explain. offspring with ee In this case, the second gene from person II-1 cannot be predicted using Punnett squares. Either genotype Ee or EE may be correct. When this situation occurs, both genotypes are written under the symbol (Figure 20-5) Predicting the second gene for III-1 results in her being heterozygous. Although her mother must provide her with one recessive gene, she has free lobes, so the second gene must be dominant (Figure 20-5). At some time in the future, if II-1 and II-2 have many more children, one might be able to predict the father’s second gene. For example, if they have ten children and all show the dominant free lobes, one could safely conclude that he is EE. If, however, they have some children with attached earlobes (ee), then he must be Ee When both parents show a dominant trait and their child or children all show a dominant trait, one cannot predict the second gene for anyone if only a small family is available. Analysis 1. Draw a pedigree for a family showing two parents and four children. (a) Include a marriage line and label it. (b) Include a children’s line and label it. (c) Make the oldest two children boys and the youngest two girls. 2. Fill out the following pedigree. Find the genotype for each person. Use B & b. 13 Knowing Your Blood Type If you ever have surgery and need blood, your doctor will need to know your blood type. The only type of blood you can receive is blood that will not clot with your blood. 1. Fill in the blanks in the table. If you have blood type your genes are A IA IA or IAi IB IB or B IBi so you received this gene from one parent and this gene from the other parent IA IA IA i IB IB IB i AB IA IB IA IB O ii i i 2. Use the information below to ill in the table. Type A has plasma proteins that clot with red cell proteins from donor type B. Type B has plasma proteins that clot with red cell proteins from donor type A. Type AB has no plasma proteins that will clot with red cell proteins from any donor types. Type O has plasma proteins that clot with red cell proteins from donor types A, B, or AB. Blood Type Can receive blood from type(s)… A A, O B B, O AB A, B, AB, O O O Universal Donor = O Universal Recipient= AB 14 Sample Questions 1) Brad is Type A blood and Angelina is Type B blood. Assume they are both homozygous. What are the possible phenotypes of their children? IA IA IB IA IB IA IB IB IA IB IA IB 2) Jennifer is Type O. If Brad and Jennifer had a child when they were married what could have been the phenotypes of their children? i i IA IA i IA i IA IA i IA i 3) Could a man with type B blood and a woman with type AB produce a child with type O blood? IB IA IB IB IA IB IA IB IB IB IB IB IB IA IB i IA IB IA i IB IB IB i 15 Sex Determination * It is the father's sperm that determines the sex of the baby Sex Linkage: o more genes are carried on the sex chromosome = X-linked genes o sex-linked genes are on one chromosome; these are linked = get inherited together o Colorblindness: recessive; inability to distinguish colors (red/green) Hemophilia: recessive; bleeder’s disease; impaired ability of blood to clot Duchenne Muscular Dystrophy: weakens and destroys muscle tissues representing sex-linked traits: XC = normal, Xc = colorblind XH = normal, Xh = hemophiliac X = normal, Colorblindness Example: X = disease trait normal female normal female colorblind female normal male colorblind male o 16 carrier: heterozygous female she has one copy of the trait but does not have the disease she can pass the trait to her children men can NEVER be carriers - if they have one copy of the allele they automatically have the disease Figure 1: Inheritance of Hemophilia “Carrier” Mother and Father Without Hemophilia Figure 2: Inheritance of Hemophilia Mother who is not a carrier and Father With Hemophilia Answer the following according to figure 1. 1. The mother has a gene for bleeding but she is not a “bleeder” because this gene is recessive. 2. The gene for bleeding in the X chromosome passes from the mother to one of the daughters and one of the sons. 3. The daughter who receives the X chromosome is, like her mother, a carrier. 4. The son who receives the X chromosome is, on the other hand, a hemophiliac. 5. This happens because in the male, the Y chromosome has no gene for clotting to dominate the gene for bleeding. 6. In other words, any male having a single gene for bleeding will be born with hemophilia. Sample problems: 1) Wilma, a colorblind woman, marries Fred, a normal male. a) What percent of their children will be colorblind? 50% X X XX X XX b) What percent of their sons? 100% c) What percent of their daughters? 0% Y XY X 2) Neither Marie or Frank is colorblind but their son Raymond is colorblind. How is this possible? Marie is a carrier XY X XX XX XY XY X Y 17 Sex-Influenced Traits: male or female hormones may influence gene expression ex. baldness controlled by gene B; dominant in males but recessive in females BB= bald in male and female Bb= bald in male, normal in female; caused by testosterone Polygentic Traits: ex. skin color is influenced by 3-6 genes; control the amount of pigment (melanin) in the skin Non-Disjunction Disorders: failure of chromosomes to separate in meiosis o Monosomy X aka Turner’s syndrome: 45 chromosomes; underdeveloped, sterile female o Trisomy X: XXX; super females; some retarded o Klinefelter’s syndrome: XXY; normal egg x XY sperm sterile, underdeveloped males XYY: tall aggressive males, criminals? Down Syndrome: Trisomy 21 extra chromosome 21 mild to severe retardation, facial features, muscle weakness, heart defects, short stature o o Monosomy X Trisomy X Detecting Human Genetic Disorders o Genetic screening: exam of person’s chromosomes ex. karyotype: picture of chromosomes blood test amniocentesis: testing of amniotic fluid from embryo chorionic villi sampling: sample tissue between mother’s uterus and placenta o Genetic counseling: talk to patients about genetic disorders and risks of having affected children Human Characteristics 18 Trisomy 21 As you know, chromosomes work in pairs. The members of each chromosomes pair are called homologous chromosomes, and the two chromosomes of each pair are approximately the same length, the same shape, and carry alleles for the same genes. Each chromosome of a pair comes from a different parent: one from the mother through the egg and the other from the father through the sperm. Humans have 23 pairs of chromosomes, or a total of 46 chromosomes, per cell. Only 22 of these pairs are truly homologous. The twenty-third pair, the sex chromosomes, may or may not match, depending on whether the individual is female (XX) or male (XY). The diagram below shows a generalized view of one pair of homologous chromosomes from an individual human. Assume the chromosome on the left is from the father and the one on the right is from the mother. You should be aware that any two alleles of a gene have different effects on the trait that they control. For example, the M allele causes more melanin to be made in the skin, giving it a darker color; the m allele causes less melanin, resulting in a lighter skin color. Even though the effects are different, the two alleles in an allele pair control the same trait- in this case, skin color. Sample Problem Determine the genotypes and corresponding phenotypes of the person whose chromosomes are shown above. Genotypes Phenotypes Ff freckled Tt taste ability Bb brown hair Hh has disease Rh+ RhRh+ (positive is dominant) Mm darker skin Cc normal vision Which parent donated a blond hair allele? mother Was that parent blond? possibly- no way to know for sure from information given Is this person blond? no Is this person colorblind? no Can this person taste the chemical? yes Is his person freckled? yes From the information provided, can you determine no- these are not the sex chromosomes and the genes shown this person’s eye color or sex? do no control eye color Exercises 19 Determine the genotypes and corresponding phenotypes of the people whose chromosomes appear below. Then answer the questions that follow. Genotypes Phenotypes 1. a. Ff freckled b. tt can’t taste c. Bb brown hair d. hh no disease e. Rh+Rh+ f. mm light skin g. CC normal vision Genotypes Phenotypes Rh+ 2. a. Ff freckled b. TT can taste c. bb blond hair d. hh no disease e. Rh+Rh- f. mm light skin g. Cc normal vision Genotypes Rh+ Phenotypes 3. 20 a. ff unfreckled b. tt can’t taste c. BB brown hair d. HH has disease e. Rh-Rh- f. MM dark skin g. cc colorblind Rh- 4. Was Kara’s father freckled? 4. can’t tell 5. Was Kara’s mother freckled? 5. yes 6. Which of the two genotypes, Ff or FF, would have more freckles? 6. the same 7. Did either of Kara’s parents have taste ability? 7. can’t tell 8. Are all of Juanita’s brothers and sisters blond? 8. can’t tell 9. When Juanita has children of her own, will they have taste ability? 9. yes (TT) 10. What color is Phil’s hair? 10. brown 11. Is Phil skin color light or dark? 11. dark 12. Were both Phil’s parents colorblind? 12. can’t tell Part C: DNA Technology 1. The New Genetics DNA technology can be used to cure diseases, make better crops, animals, or drugs Manipulating Genes: o to isolate and transfer specific DNA segments, restriction enzymes are used to cut a piece of DNA o single chains of DNA are created with “sticky - ends” o sticky ends bind to complementary sticky ends form recombinant form out of DNA from 2 organisms cloning vectors: carrier used to clone a gene and transfer it to another organism o plasmid: ring of DNA in a bacterium o Transplanting Genes: o plasmids are used to clone a gene so that bacteria will produce a specific protein ex. insulin o Steps: 1. restriction enzymes cut the segment of DNA from a human cell that contains the insulin gene and the circular plasmid in the bacteria 2. recombinant DNA is formed by combining the human and bacterial DNA segments 3. The loop of DNA is inserted into a bacterial cell 4. The bacterial cell will produce the insulin and be duplicated every time it divides o transgenic organism: host receiving the recombinant DNA 21 2. DNA Technology Techniques DNA Fingerprints: o patterns of bands that make up fragments from an individual’s DNA Uses: comparing different species to determine how closely related compare blood, tissue at blood scene with a suspect’s blood establish relatedness or paternity Making a DNA Finger Print 1. DNA segment cut into pieces by restriction enzymes 2. gel electrophoresis: separates the DNA fragments by size and charge DNA fragments are placed in wells in a gel an electric current is run through the gel DNA fragments (- charge) migrate to the positive charged end of gel, not at the same rate smaller fragments migrate faster 3. Make visible only bands being compared by using radioactive probes and photographic film Human Genome Project: o Goals: determine the nucleotide sequence of the entire human genome 3 billion nucleotide pairs, 100,000 genes map the location of every gene on each chromosome 3. Practical Uses of DNA Technology Producing Pharmaceutical Products: that are safer and less expensive than produced by conventional means Genetically Engineered Vaccines: o vaccine: solution containing a harmless version of virus or bacterium o new DNA technology can prevent a pathogen (disease causing agent) from harming someone that has received a vaccine (only rare cases) Increasing Agricultural Yields: o produce bacteria- resistant, herbicide- resistant, and insect - resistant crops o improves the quality and quantity of the human food o isolate genes from nitrogen-fixing bacteria and transplant to plants so they can be grown in nitrogenpoor soil without fertilizers Part D: Gene Expression 1. Control of Gene Expression activation of a gene that results in the formation of a protein when transcription occurs a gene is “expressed” or “turned-on” ex. gene for blue eyes is “expressed” only in the iris of the eye genome: the complete genetic material contained in an individual repressor protein: inhibits a gene from being expressed (“turns off the gene”) 2. Gene Expression and Development Cell Differentiation: development of cells with specialized-functions o 22 controlled by gene expression Cancer: o tumor: abnormal group of cells from uncontrolled, abnormal cell division benign: no threat unless compressing a vital organ; in a single mass ex. fibroid cyst in uterus or breast, warts malignant: abnormal cells invade and destroy healthy tissue elsewhere in body metastasis: spreading of cancer beyond original site Kinds of Cancer: o carcinoma: skin, lining of organs ex. lung cancer, breast cancer o o sarcomas: bone and muscle tissue lymphomas: solid tumors in blood-forming tissue and may cause leukemia o leukemia: uncontrolled production of white blood cells Causes of Cancer: o mutations that alter expression of genes spontaneous caused by carcinogen (substance that increases the risk of cancer) ex. smoking, asbestos, radiation viruses (HPV) o mutagen: agents that cause mutations Plant and Animal Breeding Since the beginning of agriculture, farmers have tried to improve plants and animals for food. They have mated animals with the traits they wanted. They have saved seeds from the best plants and planted the seeds the following year. Selecting hardy, productive plants and animals to produce the next generation is called selective breeding. Selective breeding is based on the techniques of mass selection, inbreeding, and hybridization. Mass selection is choosing the best plants and animals from a large number for further breeding. Inbreeding is the mating of related individuals to establish pure lines. Breeders use inbreeding to keep desirable traits in a plant or animal species. In hybridization, two different but related varieties or species of plants or animals are mated. The results of the mating are called hybrids. Examples of selective breeding are described below. In the space provided, identify each example as either mass selection, inbreeding, or hybridization. 1. Luther Burbank grew large numbers of fruits, flowers, vegetables and grains. He selected the best plants to breed for the next generation. He grew thousands of plants trying to produce one improved species. Mass selection 2. A dog had five puppies. Two of the puppies, a male and a female, were a golden color. When the puppies were mature, they were mated to each other in an attempt to produce puppies with the same golden color. inbreeding 3. A male championship race horse was mated to its female offspring to produce a horse with the championship traits of the male horse. inbreeding 4. An apple liked by consumers for its taste, crispness, and long storage life was pollinated with the pollen of an apple that resisted disease. The resulting apple has the taste, crispness, and long storage life shoppers want. It also resists diseases. hybridization 5. A large pink daisy is discovered in a bed of all white daisies. Seeds from the pink daisy are collected and planted the next year with hopes of producing more pink daisies. Mass selection 6. The bull mastiff is the result of breeding an aggressive bull dog with a large, fast, gentle mastiff. The bull mastiff has proved to be a good guard dog. hybridization 23 Practice Questions 1. Which may occur in meiotic division 1 of a primary sex cell? 1. fertilization 2. crossing over 3. polyploidy 4. differentiation 2. Cosmic rays, x-rays, ultraviolet rays, and radiation from radioactive substances may function as 1. pollinating agents 2. plant auxins 3. mutagenic agents 4. animal pigments 3. In a particular variety of corn, the kernels turn red when exposed to sunlight. In the absence of sunlight, the kernels main remain yellow. Based on this information, it can be concluded that the color of these corn kernels is due to the 1. effect of sunlight on transpiration 3. principle of sex linkage 2. law of incomplete dominance 4. effect of environment on gene expression 4. The Himalayan rabbit has white fur over most of its body, but it has black fur on its tail, ears, and tips of its legs and nose. Two rabbits that are homozygous for this hair pattern are mated. When their offspring are exposed to normal temperatures, they exhibit normal Himalayan hair pattern. However, when their offspring are exposed to low temperatures (10oC), they have black fur covering their entire bodies. This illustrates: 1. that mutations are caused by heat radiation 2. that the traits of an organism are determined by its genes 3. the importance of the environment in gene expression 4. the law of incomplete dominance 5. Substances that cause a chemical change in the DNA of a cell are known as 1. glycogens 2. chromatids 3. mutagens 4. chromosomes 6. Race horses show many variations from the wild horses ancestors from which they were derived. It is most likely that these variations between race horses and their ancestors are due to 1. use and disuse or organs 3. gene cloning 2. artificial selection 4. chromosomal non-disjunction 7. The process by which homologous chromosomes exchange segments of DNA is 1. segregation 2. fertilization 3. crossing over 4. independent assortment 8. During egg cell production in a human female, the 21st pair of chromosomes may fail to separate. This failure to separate is known as 1. crossing over 2. polyploidy 3. gene mutation 4. non-disjunction 9. A common practice used by breeders to maintain a desired trait in dogs is 1. artificial selection 2. regeneration 3. vegetative propagation 4. sporulation 10. Strontium-90, a radioactive isotope found in nuclear fallout, is incorporated and used by the human body in much the same manner as calcium. Because of its radioactive nature, strontium-90 would probably 1. cause disjunction of chromosomes 3. act as a mutagenic agent within bone cells 2. take the place of phosphorus in chromosomes 4. inhibit the development of mutations 11. Although genetic mutations may occur spontaneously in organisms, the incidence of such mutations may be increased by 1. radioactive substances in the environment 3. lack of vitamins in the diet 2. a long exposure to humid climates 4. a short exposure to freezing temperatures 24 Part F Nucleic Acid and Protein Synthesis DNA proteins are found in all living things are species specific/individual specific (transplant rejections) Importance of DNA chromosomes: DNA + RNA nucleotide= 5 carbon sugar, nitrogen base and phosphate draw nucleotide here: 1953 Watson and Crick- model of DNA molecule as a spiral helix Structure of DNA = double helix (like ladder twisted on its long axis) side of ladder - sugar and phosphate rungs = nitrogen base pairs only _________ nitrogen bases in DNA: purines: adenine and guanine pyrimidines: thymine and cytosine arranged in complementary base pairs: A----T all G----C go The Roles of DNA and RNA teachers crazy Replication of DNA replication= The process of making an identical copy of a section of double stranded DNA DNA ladder unzips at base pairs free nitrogen bases assemble on the open strands, forming two new complete strands occurs with great degree of accuracy requires enzymes called DNA polymerases 25 RNA Transcription: Copies the Information of DNA transcription = making complementary copy of DNA segment (is it an exact copy? Explain why or why not) made inside nucleus leaves nucleus and goes to ribosome in cytoplasm to direct synthesis of protein RNA differs from DNA RNA: -one strand -ribose sugar -uracil replaces thymine as fourth nitrogen base -is smaller than DNA three types of RNA: 1/ mRNA - carries "recipe" for protein to ribosome 2/ tRNA - carries amino acids to ribosomes 3/ rRNA - in ribosomes mRNA transcribed in nucleus: mRNA leaves nucleus and moves to ribosome to direct protein synthesis Codons Determine Amino Acid Sequence codon = group of three nitrogen bases on mRNA that codes for an amino acid -also called triplets 2 to 3 codons for each a.a. (20-22) 1 codon (AUG) is start codon several stop codons Protein Synthesis Translation: Proteins are Synthesized mRNA moves to ribosome acts as template for protein synthesis tRNA has anticodon that will match mRNA codons as ribosomes move across mRNA, tRNA brings appropriate amino acids to it amino acids bond together forming a peptide chain, which forms a polypeptide, which, when reaching macromolecular size, is a protein (polypeptide) 26 Practice Questions: 1. Which is a five carbon sugar found in an RNA molecule? 1. uracil 2. ribose 3. adenine 4. glucose 2. Which base is found in DNA but not in RNA? 1. adenine 2. cytosine 4. uracil 3. thymine 3. The sequence of nucleotides in a messenger RNA molecule is determined by the sequence of nucleotides in a 1. transfer RNA molecule 3. polysaccharide molecule 2. protein molecule 4. DNA molecule 4. In protein synthesis, the code for a particular amino acid is determined by 1. the one gene-many enzyme hypothesis 3. multiple alleles 2. a sequence of three nucleotides 4. the number of messenger RNA molecules 5. If the code for glutamic acid is ATG on the DNA molecule, this code on the transfer RNA molecule may be written as 1. ATG 2. CTG 3. AUG 4. GTA 6. To which organelles is messenger RNA attached? 1. chloroplast 2. ribosomes 3. mitochondria 4. vacuoles 7. During protein synthesis, amino acids are picked up in the cytoplasm and positioned at the ribosomes by 1. unattached nucleotide molecules 3. molecules of DNA 2. polypeptide molecules 4. molecules of RNA 8. In protein synthesis, which sequence of bases in transfer RNA will pair up with the sequence GGU found in the messenger RNA? 1. CCT 2. CCA 3. AAC 4. UUA 9. Which is the correct sequence of code transfer involved in the formation of a polypeptide? 1. DNA, tRNA, mRNA 3. mRNA, tRNA, DNA 2. tRNA, DNA, mRNA 4. DNA, mRNA, tRNA 10. The position of an amino acid in protein molecule is determined by the 1. concentration of amino acids in the cytoplasm 2. amount of ATP in the cell synthesizing the protein 3. sequence of nitrogenous bases in DNA 4. sequence of amino groups in the amino acid 11. A sequence of three nitrogenous bases in an mRNA molecule is known as 1. codon 2. gene 3. polypeptide 4. nucleotide 12. In the synthesis of proteins, what is the function of mRNA molecules? 1. They act as a template for the synthesis of DNA. 2. They carry information that determines the sequence of amino acids 3. They remove amino acids from the nucleus. 4. They carry specific enzymes for dehydration synthesis. 13. A change in the base sequence of DNA is known as 1. a gene mutation 2. a karyotype 3. nondisjunction 4. polyploidy 14. Which nuclear process is represented below? 1. recombination 2. fertilization 3. replication 4. mutation 27 Protein Synthesis Protein synthesis is a complex process. You will trace the steps that are involved in the protein synthesis of a part of a molecule of oxytocin. Oxytocin is the pituitary hormone that helps regulate blood pressure, stimulates the uterus to contract during childbirth, and stimulates the production of milk after childbirth. A. Protein synthesis begins with DNA in the nucleus. Below is a DNA sequence that could code for part of a molecule of oxytocin. Write the sequence of messenger RNA (mRNA) codons that would result from the transcription of this portion of DNA . The arrow marks the starting point (Nucleus) DNA TRANSCRIPTION: mRNA: (Codon) ACA - ATA - TAG - CTT - TTG - ACG - GGG - AAC - CCC - ATT 1 2 3 4 5 6 7 8 9 10 1 UGU 2 3 4 5 – UAU - AUC - GAA – AAC - 6 7 UGC – CCC - 8 UUG 9 10 - GGG - UAA B. After transcription (in nucleus), mRNA attaches to a ribosome where translation (in cytoplasm) takes place. Each codon of mRNA bonds with an anticodon of a transfer RNA (tRNA) and each tRNA molecule bonds with a specific amino acid. The table below shows the mRNA codons and the amino acids for which they code. For example, if you were given the codon AGA, you can see from the table that these bases code for the amino acid arginine. Use the information on the codon chart to fill in the following table. The first row has been completed to get you started. DNA triplet AAA GTC ACT UAC mRNA 1. UGU 2. UAU 3. AUC 4. GAA 5. AAC 6. UGC 7. CCC 8 UUG 9. GGG 10. UAA 28 mRNA codon UUU CAG UGA AUG tRNA codon AAA GUC ACU UAC Amino Acid Phenylalanine glutamine STOP Methionine (START) Use the mRNA sequence from A to write the sequence (1 –10) of amino acids in this part of the oxytocin molecule. Cysteine - Tyrosine - Isoleucine – Glutamic Acid – Asparagine – Cystein – praline – leucine – glycine - STOP 1. How many amino acids make up this portion of the oxytocin molecule? 9 + 1 stop codon 2. What is the purpose of the UAA codon? tells the ribosome to stop protein synthesis C. In order to get another view of the entire process of protein synthesis, label the structures on the diagram below. (ribosome (rRNA), mRNA [codon=3 bases], tRNA [anticodon=3 bases], protein, DNA DNA mRNA tRNA mRNA ribosome To complete the chart below, give the name and a brief description of each step in protein synthesis that occurs in the part of the cell shown in the diagram above. PART OF CELL Name of Protein Synthesis Process Description Nucleus transcription ribosome translation RNA code amino acids cytoplasm protein modified polypeptide chains folded to into proteins DNA mRNA 29 Base your answers to questions 1 through 3 on the diagram below showing a joining of two amino acids that occurs within cells. 1. The process represented in the diagram occurs on the cell organelle known as a 1. vacuole 2. ribosome 3. chloroplast 4. mitochondrion 2. Which amino acid would be transferred to the position of codon CAC? 1. leucine 2. glycine 3. valine 4. histidine 3. The process represented in the diagram is 1. lipid digestion 2. cell respiration 3. protein synthesis 4. protein hydrolysis 4. Proteins are made from amino acids by the process of 1. hydrolysis 2. pinocytosis 3. active transport 4. dehydration synthesis Use the following choices for questions 5 through 8. Types of Nucleic Acid Molecules (1) DNA molecule, only (2) RNA molecules, only (3) Both DNA and RNA molecules (4) Neither DNA nor RNA molecules 5. May contain adenine, cytosine, guanine, and thymine. 1 6 Carry genetic information from nucleus to ribosomes. 2 7. Are present in the nucleus of the cell. 3 8. Consist of chains of nucleotides. 3 9. What is the process called which uses the information coded in DNA to chemically link amino acids into a chain? translation 10. The amino acid sequences of three species shown below were determined in an investigation of evolutionary relationships. Species A: Val His Leu Ser Pro Val Glu Species B: Val His Leu Cys Pro Val Glu Species C: Val His Thr Ser Pro Glu Glu Based on these data, which two species are most closely related? Support your answer. Species A & B because they have more amino acids in common 30 Unit Review 1. A child is born with a genetic disorder to parents who show no symptoms of the disorder. Explain the type of information a genetic counselor might provide to these parents. In your answer, be sure to: explain why the child exhibits symptoms of the genetic disorder even though the parents do not identify one technique that can be used to detect a genetic disorder identify one genetic disorder it’s a recessive trait/ parents are heterozygous/ mutation occurred/ nondisjunction occurred karyotyping/ blood sampling/ amniocentesis Downs Syndrome/ hemophilia/ sickle cell anemia/ PKU 2. One variety of wheat is resistant to disease. Another variety contains more nutrients of benefit to humans. Explain how a new variety of wheat with disease resistance and high nutrient value could be developed. In your answer, be sure to: identify one technique that could be used to combine disease resistance and high nutrient value in a new variety of wheat describe how this technique would be carried out to produce a wheat plant with the desired characteristics describe one specific difficulty (other than stating that it does not always work) in developing a new variety using this technique genetic engineering/ selective breeding take gene for desirable trait and move it into another plant/ cross two plants with desirable traits difficult to isolate one gene/ other traits may show up/ moved gene may not be expressed 3. Although human muscle cells and nerve cells have the same genetic information, they perform different functions. Explain how this is possible. Some genes are turned on or expressed/ cells are specialized 4. For many years, humans have used a variety of techniques that have influenced the genetic makeup of organisms. These techniques have led to the production of new varieties of organisms that possess characteristics that are useful to humans. Identify one technique presently being used to alter the genetic makeup of an organism, and explain how humans can benefit from this change. Your answer must include at least: the name of the technique used to alter the genetic makeup a brief description of what is involved in this technique one specific example of how this technique has been used a statement of how humans have benefited from the production of this new variety of organism genetic engineering/ gene manipulation/ selective breeding/ gene therapy move segment of DNA from one organism into another production of insulin/ human growth hormone more insulin available for diabetics 5. Knowledge of human genes gained from research on the structure and function of human genetic material has led to improvements in medicine and health care for humans. state two ways this knowledge has improved medicine and health care for humans identify one specific concern that could result from the application of this knowledge diagnose diseases/ prevent diseases/ gene therapy/ genetic engineering to produce hormones overpopulation/ may lead to discrimination/ may limit insurance coverage 31 Base your answer to questions 6 and 7 on the information and chart. 6. Identify one environmental factor that could cause a base sequence in DNA to be changed to a different base sequence. carcinogen, mutagen, chemicals. UV rays, radiation, X-rays 7. Describe how a protein would be changed if a base sequence mutates from GGA to TGA. different amino acid sequence, Threonine instead of proline Base your answers to questions 8 and 9 on the following passage. The Human Genome Project For a number of years, scientists at Cold Spring Harbor Laboratory have been attempting to map every known human gene. By mapping, scientists mean that they are trying to find out on which of the 46 chromosomes each gene is located and exactly where on the chromosome the gene is located. By locating the exact positions of defective genes, scientists hope to cure diseases by replacing defective genes with normal ones, a technique known as gene therapy. Scientists can use specific enzymes to cut out the defective genes and insert the normal genes. They must be careful to use the enzyme that will splice out only the target gene, since different enzymes will cut DNA at different locations. While the human genome project should eventually improve the health of humans, many people are skeptical and apprehensive, believing that gene therapy would be working against nature and would have religious, moral, legal, and ethical implications. 8. Using one specific example, explain why the human genome project is considered important. to cure diseases/ you can replace defective genes with normal ones 9. Explain why scientists must use only certain enzymes when inserting or removing a defective gene from a cell. different enzymes will cut DNA at different locations 10. Give three examples of how the technology of genetic engineering allows humans to alter the genetic makeup of organisms. produce insulin/ clone sheep/ produce disease-resistant plants 32