Biology 30 Unit C Exam Genetics and Molecular Biology

Name: Students will:

Define and explain the significance of chromosome number in somatic and sex cells; i.e., haploidy, diploidy and polyploidy Explain, in general terms, the events of the cell cycle; i.e., interphase, mitosis and cytokinesis Describe the process of meiosis (spermatogenesis and oogenesis) and the necessity for the reduction of chromosome number Compare the processes of mitosis and meiosis Describe the processes of crossing over and nondisjunction and evaluate their significance to organism inheritance and development Compare the formation of fraternal and identical offspring in a single birthing event Describe the diversity of reproductive strategies by comparing the alternation of generations in a range of organisms; e.g., Daphnia, sea anemone, moss, pine Describe the evidence for dominance, segregation and the independent assortment of genes on different chromosomes, as investigated by Mendel Compare ratios and probabilities of genotypes and phenotypes for dominant and recessive, multiple, incompletely dominant, and codominant alleles Explain the influence of gene linkage and crossing over on variability Explain the relationship between variability and the number of genes controlling a trait; e.g., one pair of genes, as for Rh factor, versus two or more pairs of genes, as for skin colour and height Compare the pattern of inheritance produced by genes on the sex chromosomes to that produced by genes on autosomes, as investigated by Morgan and others. Summarize the historical events that led to the discovery of the structure of the DNA molecule, including the work of Franklin and Watson and Crick Describe, in general, how genetic information is contained in the sequence of bases in DNA molecules in chromosomes and how the DNA molecules replicate themselves Describe, in general, how genetic information is transcribed into sequences of bases in RNA molecules and is finally translated into sequences of amino acids in proteins Explain, in general, how restriction enzymes cut DNA molecules into smaller fragments and how ligases reassemble them Explain, in general, how cells may be transformed by inserting new DNA sequences into their genomes explain how a random change (mutation) in the sequence of bases results in abnormalities or provides a source of genetic variability Explain how base sequences in nucleic acids contained in the nucleus, mitochondrion and chloroplast give evidence for the relationships among organisms of different species.

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/ 50 Total Marks

Biology 30

Unit C Exam

1. One aspect of meiosis that is different from mitosis, is that normally by the end of meiosis a. Two diploid cells result b. Four diploid cells result c. Two haploid cells result d. Four haploid cells result Use the following information to answer the next 2 questions Biologists using light microscopes to study mitosis noticed that the nuclear membrane of a cell disappeared and then reformed during the process. They could not explain this disappearance until they used electron microscopes to view mitotic cells. These observations revealed a large number of vesicles (small bubble shaped structures bound by membranes) that appeared in the cytoplasm during mitosis and then disappeared when mitosis was nearly complete. During mitosis, the nuclear membrane appeared to disintegrate and form these tiny vesicles. The vesicles disappeared when the new nuclear membranes formed. 2. The vesicles observed with the aid of an electron microscope appeared and disappeared, respectively, during a. Prophase and anaphase b. Prophase and telophase c. Interphase and anaphase d. Interphase and telophase 3. During mitosis, the chromosomes a. Are located at the cell equator during prophase b. Are located at the cell equator during telophase c. Move toward the poles of the cell during anaphase d. Move toward the poles of the cell during metaphase 4. Hypophosphatemia is one of the few genetic diseases caused by a dominant allele carried on the X chromosome. It causes a severe deficiency of phosphate ions in the blood. A female with hypophosphatemia whose father had the disease but whose mother did not will likely transmit the disorder to a. Her sons only b. Her sons and her daughters equally c. All of her daughters but none of her sons d. All of her daughters and 50% of her sons

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5. Certain disorders result if an extra chromosome is present in all nucleated cells of the body (trisomy). These disorders arise because of nondisjunction, a malfunction that occurs during a. DNA replication b. RNA transcription c. Telophase of mitosis d. Anaphase of meiosis Use the following information to answer the next question The use of marker genes and the analysis of crossover frequencies of genes have enabled geneticists to map the location of many genes on human chromosomes. Blue colour vision and blue colourblindness (tritanopia) are controlled be a gene on chromosome 7. The gene for the production of trypsin (a digestive enzyme) and the gene responsible for cystic fibrosis are also found on chromosome 7. Some crossover frequencies of these genes are shown below. Pair of Genes Marker gene cystic fibrosis Marker gene tritanopia Cystic fibrosis trypsin Trypsin tritanopia Crossover Frequency 18% 13% 6% 1%

6. Which of the following gene maps shows the correct sequence of these genes on chromosome 7?

Biology 30

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Use the following information to answer the next 3 questions Cystic fibrosis is the most common genetic disorder among Caucasians, affecting 1 in 2000 Caucasian children. The cystic fibrosis allele results in the production of sticky mucus in several structures, including the lungs and exocrine glands. Two parents are unaffected by the disorder can have a child with the disorder. 7. Which of the following terms BEST describes the allele for cystic fibrosis? a. Codominant b. Dominant c. Recessive d. X-linked Use the following additional information to answer the next 2 questions A girl and her parents are unaffected by the disease. However her sister is affected by cystic fibrosis. 8. The genotypes of the mother and father are a. Both homozygous b. Both heterozygous c. Homozygous and heterozygous, respectively d. Heterozygous and homozygous, respectively NUMERICAL RESPONSE 1) These parents, who are unaffected by cystic fibrosis, are planning to have another child. What is the percentage probability that their next child will be affected by cystic fibrosis? Answer: % (Record your answer as a whole number percentage)

Portion of Insulin Protein

Phenylalanine Valine Asparagine Glutamine Histidine

9. What is the strand of DNA that would code for this portion of insulin? a. AAA CAA TTC CAC CTA b. CAC GAG AAC GTA TTC c. TTC GTA AAC GAG CAC d. AAG CAA TTA GTT GTA

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Use the following information to answer the next 2 questions In pea plants, tall (T) is dominant over short (t), and round seed (R) is dominant over wrinkled seed (r). The Punnett square below shows a cross between a heterozygous tall heterozygous round seed plant and a short heterozygous round seed pea plant. Different types of offspring are represented by numbers. tR tr TR 1 5 Tr 2 6 tR 3 7 tr 4 8

10. Which two types of offspring are pure breeders for both plant height and seed shape? a. 1 and 6 b. 2 and 5 c. 3 and 8 d. 4 and 7 11. Which two types of offspring, when crossed, could be expected to produce a population in which 50% of their offspring would be tall and 100% would produce round seeds? a. 1 and 8 b. 2 and 4 c. 3 and 7 d. 5 and 6 Use the following information to answer the next question Pedigree of Human ABO Blood Types

12. The genotype of individual I-1 is a. ii b. IAi c. IBi d. IAIA

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NUMERICAL RESPONSE 2) In addition to the ABO system, human blood may be typed as Rh+ or Rh-. The blood types Rh+ and Rh- are controlled by the dominant allele R (Rhesus positive) and the recessive allele r (Rhesus negative). If a woman with the genotype iAiB Rr and a man with the blood type O Rhhave a child, what is the probability that the child will have blood type A Rh-? Answer: % (Record your answer as a value from 0 to 1, rounded to 2 decimal places) 13. DNA is structurally different from RNA in that DNA a. Contains uracil and is composed of double strands b. Contains adenine and is composed of single strands c. Contains guanine and is composed of single strands d. Contains thymine and is composed of double strands 14. Analysis of a DNA sample showed that 15% of the nitrogen-base molecules present were adenine molecules. This sample would likely contain a. 15% thymine b. 15% uracil c. 85% thymine d. 85% uracil Use the following information to answer the next question In DNA replication, the two strands of the double helix separate and a new strand forms along each old one. Each new DNA molecule has one old and one new strand 15. The name of the old DNA strand and the site of DNA replication are identified in a row ROW a. b. c. d. Name of Old Strand A template A template Haploid Haploid Site Nucleus Cytoplasm Nucleus Cytoplasm

Biology 30

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NUMERICAL RESPONSE Use the diagram below, to answer the next question.

3) Match the stages of the mitotic phase, as numbered above, with the appropriate stage of mitosis given below. Mitotic Phase: Stage of Mitosis: anaphase metaphase prophase telophase (Record your 4-digit answer) Use the following information to answer the next question Scientists believe that a mutant form of an autosomal gene called BRCA1 may be associated with 5% to 10% of all cases of breast cancer. About 80% of women who inherit the gene in its defective form are likely to develop a cancerous breast tumor. Men who carry the faulty BRCA1 gene rarely develop breast cancer, but they may pass the gene to their offspring. A couple have 2 children, a girl and a boy. The mother has a single mutant gene for breast cancer; the father is not a carrier of the mutant BRCA1 gene. 16. What is the probability that their daughter has inherited the mutant BRCA1 gene? a. 75% b. 50% c. 25% d. 0%

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17. F1 Blood Type Cross:

IA IB IA IB

IA i IA i

The genotypes of the parent to whim this Punnett square applies are: a. Heterozygous B and homozygous A b. Heterozygous O and homozygous A c. Homozygous B and heterozygous A d. Heterozygous B and heterozygous A 18. A bacterium has been found that produces a form of plastic called polyhydroxybutrate (PHB). Genes from this bacterium have been transferred into a weed called Arabidopsis thaliana. These weeds now produce a biodegradable plastic. The technology of transferring a gene from a bacterium into a green plant is based on the principle that a. All genes carry the same genetic information b. All genes have the same basic chemical components c. The genotypes of the bacterium and green plants are the same d. The phenotypes of an organism is not altered when one gene is exchanged for another Use the following information to answer the next 4 questions Sickle cell anemia is caused by the sickle cell allele (HbS) of a gene that contributes to hemoglobin (Hb) production. The abnormal hemoglobin (hemoglobin S) produced causes the red blood cells to become deformed and block capillaries. Tissue damage results. Affected individuals homozygous for the sickle cell gene rarely survive to reproductive age. Heterozygous individuals produce both normal hemoglobin and a small percentage of hemoglobin S. These individuals are more resistant to malaria that individuals who are homozygous for the allele for normal hemoglobin (HbA). Their red blood cells are prone to sickling when there is a deficiency of oxygen. 19. If a man and a woman who are both heterozygous for the alleles HbA and HbS have a child, the probability that the child would NOT be heterozygous is a. 0.00 b. 0.25 c. 0.50 d. 0.75

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Use the following additional information to answer the next question A pedigree that illustrates the inheritance of Sickle Cell Anemia

NUMERICAL RESPONSE 4) The phenotype of III 6 is unknown. What is the probability that this individual is a carrier of the sickle cell allele? Answer: % (Record your answer as a whole number percentage.) Use this additional information to answer the next two questions. The malaria causing microorganism Plasmodium falciparium is injected by mosquitoes into the bloodstream of humans. Historically, the frequency of the HbS allele in Africa relates directly to the presence of the malaria-causing organisms. In western Africa, the frequency of the HbS allele in the gene pool is 0.15. In central Africa the frequency is 0.10, and in southern Africa the frequency is 0.05. 20. What is the frequency of the HbA allele in the gene pool in western Africa? a. 0.72 b. 0.85 c. 0.90 d. 0.95 21. Which of the following conclusions can be drawn from all of the information provided on sickle cell anemia? a. The sickle cell gene will eventually disappear because of its interaction with malaria b. Malaria causes heterozygous individuals to be less fertile that homozygous individuals c. In Africa, sickle cell anemia will disappear since it is lethal in the homozygous condition d. In Africa, carriers for sickle cell anemia have an advantage over homozygous individuals

Biology 30

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Use the following information to answer the next 2 questions The Romanovs, the Russian royal family, were shot dead during the Russian Revolution in 1918. The family included Czar Nicholas II and his wife Alexandra; their daughters, Olga, Maria; Tatiana and Anastasia; and their son Alexis, who was a hemophiliac. In 1992, scientists in Russia started work on the identification of skeletons thought to be the remains of the Czar, his wife, and three of their daughters. The research crushed and partially dissolved some bones to extract DNA. To determine which skeletons belonged to the Romanovs, the researchers analyzed samples of mitochondrial DNA. Mitochondrial DNA is passed only from mother to child. Some parts of mitochondrial DNA are very stable and mutate only once every 6000 years. The researchers also obtained a sample of mitochondrial DNA from Prince Philip of England. His maternal grandmother was Alexandras sister 22. Which observation correctly accounts for the fact that mitochondrial DNA is passed on only from mother to child? a. Eggs contain mitochondria and sperm do not b. Mitochondrial DNA is transcribed from a template on the XY chromosome set c. Mitochondrial DNA is transcribed from a template on the XX chromosome set d. An egg contributes both its nucleus and its cytoplasm to a zygote, while a sperm contributes only its nucleus NUMERICAL RESPONSE 5) Czar Nicolas II was not a hemophiliac. His wife, Alexandra, was a carrier for hemophilia. What was the probability that any of their daughters was a carrier for hemophilia? Answer: (Record your answer as a value from 0 to 1, rounded to 2 significant digits, in the numerical response section of the answer sheet.) 23. Using the DNA sequence: TCAGGA, the dipeptide formed is a. Threonine, glycine b. Threonine, proline c. Serine, proline d. Serine, glycine

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Use the following information to answer the next question Cellular Processes TAC TTC AAA CCG ATG AAG TTT GGC Process 1 AUG AAG UUU - GGC Process 2

Methionine Lysine Phenylalanine - Glycine

24. Which row correctly identifies processes 1 and 2 and indicates the locations in which these processes occur? ROW Process 1 Process 2 a. Transcription nucleus Translation cytoplasm b. Translation cytoplasm Transcription nucleus c. Translation nucleus Transcription cytoplasm d. Transcription - cytoplasm Translation - nucleus Use the following information to answer the next question Some Steps in the Production of Recombinant DNA Bacterial DNA Process 1 + Process 2 Human DNA Process 3 Recombinant DNA

25. Which row correctly identifies the enzyme directed processes 1, 2, and 3? ROW Process 1 Process 2 Process 3 a. Ligase Restriction enzymes Ligase b. Restriction enzymes Restriction enzymes Ligase c. d. Ligase Restriction enzymes Ligase Ligase Restriction enzymes Restriction enzymes

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NUMERICAL RESPONSE 6) Three genes have been identified on chromosome 2 in Drosophila (fruit flies). They control eye colour, body hair (bristles), and wing shape. The genes are: 1 cinnabar eyes 2 short bristles 3 curved wings The crossover frequency between 1 and 3 is 18%, between 2 and 3 is 24.5%, and between 1 and 2 is 6.5%. construct a gene map of three genes and indicate their number by order Answer: (Record your three-digit answer in the numerical response section of the answer sheet.) Use the following information to answer the next question In Drosophila (fruit flies), straight wing (S) is dominant to curved wings (s). A curved-wing female lays 200 eggs. The eggs hatch into larvae and they mature into adults, all with straight wings. 26. This information indicates that the genotype for the unknown male is likely a. Homozygous b. Heterozygous c. Either homozygous recessive or heterozygous d. Either homozygous dominant or heterozygous Use the following information to answer the next 2 questions Some Traits in Garden Pea Plants In pea plants, the genes for seed shape, seed colour, and plant height demonstrate independent assortment. The alleles for these genes are symbolized as follows: Seed shape R (round) > r (wrinkled) Seed colour Y (yellow) > y (green) Plant height T (tall) > t (short) 27. The phenotypic ratio of a cross between a YyTt pea plant and a yyTt pea plant is: a. 3 yellow tall : 3 yellow short : 1 green tall : 1 green short b. 1 yellow tall : 1 yellow short : 1 green tall : 1 green short c. 3 yellow tall : 1 yellow short : 3 green tall : 1 green short d. 1 yellow tall : 1 yellow short : 3 green tall : 3 green short

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28. In a cross be tween an RrYy plant and an RRYY plant, what fraction of the offspring would be expected to have the genotype RRYy? a. 1/2 b. 1/4 c. 3/8 d. 1/8 29. Which enzymes would a geneticist use to cut DNA into fragments? a. Ligase enzymes b. RNA polymerases c. DNA polymerases d. Restriction enzymes Use the following information to answer the next question Crossover Frequencies for Some Genes on Drosophila Chromosome One Genes White eyes (w) and Facet eyes (f) White eyes (w) and Echinus eyes (e) White eyes (w) and Ruby eyes (r) Facet eyes (f) and Echinus eyes (e) Facet eyes (f) and Ruby eyes (r) Crossover Frequency 1.5% 4.0% 6.0% 2.5% 4.5%

30. The crossover frequency between gene e and r is a. 3.5% b. 2.0% c. 1.5% d. 0.5% 31. Analysis of a DNA sample from the nuclei of the purple flowers determined that the thymine content of the nucleotides in the DNA was 23%. What is the likely content of adenine, cytosine, and guanine in the DNA? ROW a. b. c. d. Adenine 23% 23% 27% 27% Cytosine 27% 27% 23% 23% Guanine 27% 23% 23% 27%

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Use the following information to answer the next two questions The polymerase chain reaction (PCR) makes it possible to produce a large number of copies of a specific DNA sequence in a relatively short time. When heated to 94oC, double stranded DNA molecules separate completely, forming 2 separate strands. Later, after the temperature is lowered and with DNA polymerase present, complementary DNA strands form. The process of heating and cooling can be repeated to produce as many copies of the DNA as is required 32. If a DNA triplet is CTA, then the complementary DNA triplet is a. GAU b. CUA c. GAT d. CTA 33. PCR is similar to a process that normally occurs in cells prior to cell division. The row that identifies the site and name of this process is ROW Site Process a. Nucleus Replication b. Nucleus Transcription c. Cytoplasm Replication d. Cytoplasm Transcription Use the following information to answer the next question Hypophosphatemic rickets is an X-linked dominant disorder that is characterized by abnormal growth and bone formation NUMERICAL RESPONSE 7) If a man who has hypophosphatemic rickets and a woman who is heterozygous for the disorder have a child, what is the probability that the child will be a daughter who is heterozygous for the disorder? Answer: (Record your answer as a value between 0 and 1 rounded to 2 decimal places in the numerical response section on the answer sheet.)

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Use the following information to answer the next question Dentinogenesis imperfect is a condition associated with thin tooth enamel and discolored teeth. A student used the pedigree below to identify the mode of inheritance of dentinogenesis imperfect. The student believes that dentinogenesis imperfect is inherited in an autosomal recessive pattern.

34. The students identification of the mode of inheritance of dentinogenesis imperfect as autosomal recessive is: a. Correct: it is autosomal recessive because individual I-1 is a carrier and has an unaffected child b. Incorrect: it is X-linked recessive because individual II-7 passes the condition on to his son c. Incorrect: it is X-linked dominant because individual I-2 passes the condition on to her daughter d. Incorrect: it is autosomal dominant because individuals II-3 and II4 have an unaffected child Use the following information to answer the next question Men with Klinefelter syndrome, a genetic disorder characterized by the presence of an extra X chromosome, are usually infertile 35. The presence of the extra X chromosome in the cells of a man with Klinefelter syndrome results from abnormal: a. Synapsis b. Replication c. Segregation d. Crossing over

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Use the following information to answer the next question Fatal familial insomnia is a genetic disorder characterized by the degeneration of a region of the brain that controls sleep. The average age of onset of the disorder is 49 years. Fatal familial insomnia is caused by the presence of an autosomal dominant mutation

NUMERICAL RESPONSE 8) Using the pedigree symbols numbered above, fill in the hypothetical pedigree chart in a manner that illustrates the pattern of inheritance for fatal familial insomnia. (Use each number only once. There is more than one correct answer) Symbol Number: Individual: W X Y Z Use the following information to answer the next question

The species of mouse used in most laboratory studies has a diploid chromosome number of 40.
36. The karyotype of a male mouse of the species used in most laboratory studies would show a. 19 pairs of homologous autosomes and one pair of homologous sex chromosomes b. 39 pairs of homologous autosomes and one pair of homologous sex chromosomes c. 19 pairs of homologous autosomes and one pair of non-homologous sex chromosomes d. 39 pairs of homologous autosomes and one pair of non-homologous sex chromosomes 37. Which of the following statements best describes the inheritance of an Xlinked dominant disorder? a. A man who has the disorder has a 0% chance of passing it on to his son b. A man who has the disorder has a 50% chance of passing it on to his daughter c. A woman who is heterozygous for the disorder has a 100% chance of passing it on to her son d. A woman who is heterozygous for the disorder has a 100% chance of passing it on to her daughter Biology 30 Unit C Exam 16

38. Insulin protein is 51 amino acids long. The number of base pairs in the gene that codes for insulin is a. 51 b. 102 c. 153 d. 306 Use the following information to answer the next question Metabolic syndrome is a genetic disorder with symptoms of hypertension, elevated blood cholesterol concentrations, and lower-than-normal blood magnesium concentrations. This syndrome is caused by a mutation in mitochondrial DNA (mtDNA) in which a thymine nucleotide is replaced by a cytosine nucleotide. 39. Which of the following rows identifies the mutated mtDNA and the corresponding mRNA and tRNA produced in a person with metabolic syndrome if the normal mtDNA triplet code is TCG? ROW Mutated mtDNA mRNA tRNA a. TTG AAC UUC b. TCG UGC ACG c. CCG GGC CCG d. CCG GGC GGC 40. Variation of traits in organisms that reproduce asexually occurs as a result of a. Segregation b. Gene linkage c. Random mating d. Genetic mutations Use the following information to answer the next question Ehlers-Danlos syndrome is a genetic disorder in which the skin and joints are much more elastic than normal. This disorder is most commonly inherited as an autosomal dominant mutation.

41. Which of the following pedigrees shows the most common inheritance pattern of Ehlers-Danlos syndrome? a. A b. B c. C d. D Biology 30 Unit C Exam 17

Use the following information to answer the next question

42. Which of the following rows identifies process 1 and process 3 in the life cycle shown above? Row Process 1 Process 3 a. Meiosis Mitosis b. Mitosis Mitosis c. Mitosis Meiosis d. Meiosis Meiosis

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