Genetic Disorder Project Presentation

 

Genetic Disorders to Present Internet resources to help in research Rubric for project
You have been challenged to incorporate your knowledge about cells, cell division, genetics, and DNA to research and present on a specific genetic disorder. You have already completed your basic study about the ideas of genetics and mutations. Now with the information that you have you are being asked to research a specific genetic disorder and give an oral presentation along with creating either a PowerPoint or poster to explain the genetic disorder.

Your multimedia presentation (powerpoint / poster) along with your oral presentation
should include the following points.

  • What is the name of the disorder and what is the history behind the disorder? Who discovered it or/and who have done research on the disease?
  • How is the disorder diagnosed? How does a person receive the disorder? Is it sex-linked? Is it a mutation? Is it due to heredity?
  • You will need to find out all of the signs and symptoms of the given disorder and share these with the class.
  • What types of treatment there are for the disorder?
  • Include a suggested list of readings and/or Internet sources that may be of interest to the class.
  • You are encouraged to share any other information that you feel is relevant that you feel is important for others to know about the genetic disorder.
List of possible Genetic Disorders to Present:
  • Achondroplasia (Dwarfism)
  • Albinism
  • Adrenal hyperplasia
  • Autism/ Asperger syndrome
  • Cystic Fibrosis
  • Down Syndrome (Trisomy 21)
  • Duchenne Muscular Dystrophy
  • Familial Dysautonomia
  • Gardner syndrome (intestinal polyposis)
  • Gaucher’s Disease
  • Hemophilia
  • Huntington’s Disease
  • Jacobsen Syndrome
  • Klinefelters Syndrome
  • Klippel-Feil Syndrome
  • Leukodystrophy
  • Lou Gehrig’s Disease (ALS)
  • Marfan Syndrome
  • Moebius Syndrome
  • Polycystic Kidney Disease
  • Progeria
  • Proteus Syndrome
  • Retinoblastoma
  • Rett’s Syndrome
  • Spinocerebellar Ataxia
  • Tay-Sachs Disease
  • Tourette Syndrome
  • Turner Syndrome
List of internet resources that may be helpful to you in creating your presentation:

Yahoo – Genetic Disorders http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders/.
Site explains several different disorders and contains links to all of the different types of genetic disorders.

Genetic & Rare Conditions Sitehttp://www.kumc.edu/gec/support/.
links to different types of disorders in alphabetical order.

What can our chromosomes tell us? http://biology.about.com/science/biology/gi/dynamic/offsite.htm?site=http://gslc.genetics.utah.edu/.
A site that talks about karyotyping of genotypes.

Genetic Disorder Library
http://learn.genetics.utah.edu/units/disorders/whataregd
To learn more about different genetic disorders, browse through the Genetic Disorder Library.

A Genetics Glossary http://biology.about.com/science/biology/gi/dynamic/offsite.htm?site=http://helios.bto.ed.ac.uk/bto/glossary/index.html
A basic genetic glossary.

Genetics Education Center http://www.kumc.edu/gec/.
Seeks to help educate people about genetics.

The National Human Genome Research Institute http://www.nhgri.nih.gov/.
Explains about the human genome project.

Department of Energy – Human Genome Project Information http://www.ornl.gov/hgmis/.
Provides a lot of information about the human genome project.

A Gene Map of the Human Genome http://www.ncbi.nlm.nih.gov/science96/.
You can see the mapping of several different chromosomes found within the body.

Learning about the Human Genome Project and Genetics through the World Wide Web http://www.kumc.edu/gec/hgpwww.html.
Looks at the ethical issues of genetic research.

Understanding Gene Testinghttp://www.accessexcellence.org/ae/AE/AEPC/NIH/index.html.
This site talks of how genes are linked to disease and how a gene creates a genetic disorder.

Basics of DNA Fingerprintinghttp://www.biology.washington.edu/fingerprint/dnaintro.html.
Explains the basic understanding of DNA fingerprinting.

What is Genetic Testing? http://www.lbl.gov/Education/ELSI/Frames/genetic-testing-f.html.
Shows the basics of genetic testing and talks about the ethical issues of that happen due to genetic testing.

 

Rubric for Evaluation of Genetic Disorder Presentation.
Beginning
5 points
Developing
10 Points
Accomplished
15 Points
Exemplary
20 Points
Total
Score
Oral Presentation Quality of Information
Bare minimums have been accomplished. Little understanding about the genetic disorder delivered in oral presentation. Could only read slides with no further understanding. Minimums plus slight extras added. Answered questions from the intro and at least one question posed to them in the process section. All information present and complete. Some problems with flow and delivery. Shows more or less some understanding of knowledge – has minor flaws. Information is well thought out, flows well, all information is completed, Appears to have been practiced, knowledge shown.
Bibliography

Amount of additional Information for reading and websites found and presented

no additional reading lists or websites provided or presented in bibliography. At least 2 web sites or books accessed and verified in presentation and presented in bibliography. At least 4 web sites or books accessed and verified in presentation and presented in bibliography. At least 6 web sites or books accessed and verified in presentation and presented in bibliography.
Organization of presentation
Random information is presented Disorganized at times. Organized Organized effectively with easy understanding.
Use of class time working on project
Majority of class time was wasted. Half of class time was wasted. Little class time was wasted. No class time was wasted.
Overall Multimedia
Presentation
Disorganized
Not Completed
Missing Key Component Questions
no graphics.
Spelling errors present
presentation has some flow to it but is choppy.
Easily understood by all. Includes graphics and data tables of information retrieved. Neatly done, organized, proper spelling, allparts included,above and beyond effort.
Information that is presented is aesthetically pleasing to the eye.
Link to printable rubric in word document format

Link to Bibliography Citation Machine

TOTAL SCORE
 

 

 

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Cell Respiration

 

Cell Respiration

Overview:
In this experiment, you will work with seeds that are living but dormant. A seed contains an embryo plant and a food supply surrounded by a seed coat. When the necessary conditions are met, germination occurs, and the rate of cellular respiration greatly increases. In this experiment you will measure oxygen consumption during germination. You will measure the change in gas volume in respirometers containing either germinating or non-germinating pea seeds. In addition, you will measure the rate of respiration of these peas at two different temperatures.

Objectives:
Before doing this laboratory you should understand:

  • how a respirometer works in terms of the gas laws; and
  • the general processes of metabolism in living organisms.

After doing this laboratory you should be able to:

  • calculate the rate of cell respiration from experimental data.
  • relate gas production to respiration rate; and
  • test the effect of temperature on the rate of cell respiration in ungerminated versus germinated seeds in a controlled experiment.

Introduction:
Cellular respiration is the release of energy from organic compounds by metabolic chemical oxidation in the mitochondria within each cell. Cellular respiration involves a series of enzyme-mediated reactions. The equation below shows the complete oxidation of glucose. Oxygen is required for this energy-releasing process to occur.

C6H12O6 + 6O2 —–> 6 CO2 + 6 H2O + 686 kilocalories of energy / mole of glucose oxidized

By studying the equation above, you will notice there are three ways cellular respiration could be measured. One could measure the:

1. Consumption of O2 ( How many moles of oxygen are consumed in cellular respiration?)

2. Production of CO2 ( How many moles of carbon dioxide are produced by cellular respiration?)

3. Release of energy during cellular respiration.

In this experiment, the relative volume of O2 consumed by germinating and non-germinating (dry) peas at two different temperatures will be measured.

Background Information:
A number of physical laws relating to gases are important to the understanding of how the apparatus that you will use in this exercise works. The laws are summarized in the general gas law that states:

PV = nRT

where

P is the pressure of the gas,

V is the volume of the gas,

n is the number of molecules of gas,

R is the gas constant ( its value is fixed), and

T is the temperature of the gas (in K0).

This law implies the following important concepts about gases:

1. If temperature and pressure are kept constant, then the volume of the gas is directly proportional to the number of molecules of gas.

2. If the temperature and volume remain constant, then the pressure of the gas changes in direct proportion to the number of molecules of gas present.

3. If the number of gas molecules and the temperature remain constant, then the pressure is inversely proportional to the volume.

4. If the temperature changes and the number of gas molecules is kept constant, then either pressure or volume ( or both ) will change in direct proportion to the temperature.

It is also important to remember that gases and fluids flow from regions of high pressure to regions of low pressure.

In this experiment, the CO2 produced during cellular respiration will be removed by potassium hydroxide (KOH) and will form solid potassium carbonate (K2CO3) according to the following reaction.

CO2 + 2 KOH —-> K2CO3 + H2O

Since the carbon dioxide is being removed, the change in the volume of gas in the respirometer will be directly related to the amount of oxygen consumed. In the experimental apparatus if water temperature and volume remain constant, the water will move toward the region of lower pressure. During respiration, oxygen will be consumed. Its volume will be reduced, because the carbon dioxide produced is being converted to a solid. The net result is a decrease in gas volume within the tube, and a related decrease in pressure in the tube. The vial with glass beads alone will permit detection of any changes in volume due to atmospheric pressure changes or temperature changes. The amount of oxygen consumed will be measured over a period of time. Six respirometers should be set up as follows:

Respirometer Temperature Contents
1 Room Germinating seeds
2 Room Dry Seeds and Beads
3 Room Beads
4 100C Germinating Seeds
5 100C Dry Seeds and Beans
6 100C Beads

Procedure:
 1.Prepare a room-temperature bath (approx. 25 degrees Celsius) and a cold-water bath (approx. 10 degrees Celsius).

2.Find the volume of 25 germinating peas by filling a 100mL graduated cylinder 50mL and measuring the displaced water.

3.Fill the graduated cylinder with 50mL water again and drop 25 non-germinating peas and add enough glass beads to attain an equal volume to the germinating peas.

4.Using the same procedure as in the previous two steps, find out how many glass beads are required to attain the same volume as the 25 germinating peas.

5.Repeat steps 2-4. These will go into the 10-degree bath.

6.To assemble 6 respirometers, obtain 6 vials, each with an attached stopper and pipette. Number the vials. Place a small wad of absorbent cotton in the bottom of each vial and, using a dropper, saturate the cotton with 15% KOH (potassium hydroxide). It is important that the same amount of KOH be used for each respirometer.

7.Place a small wad of dry, nonabsorbent cotton on top of the saturated cotton.

8.Place the first set of germinating peas, dry peas & beads, and glass beads in the first three vials, respectively. Place the next set of germinating peas, dry peas & beads, and glass beads in vials 4, 4, and 6, respectively. Insert the stopper with the calibrated pipette. Seal the set-up with silicone or petroleum jelly. Place a weighted collar on each end of the vial. Several washers around the pipette make good weights.

9.Make a sling of masking tape attached to each side of the water baths. This will hold the ends of the pipettes out of the water during an equilibration period of 7 minutes. Vials 1, 2, and 3 should be in the room temperature bath, and the other three should be in the 10 degree bath.

10.After 7 min., put all six set-ups entirely into the water. A little water should enter the pipettes and then stop. If the water continues to enter the pipette, check for leaks in the respirometer.

11.Allow the respirometers to equilibrate for 3 more minutes and then record the initial position of the water in each pipette to the nearest 0.01mL (time 0). Check the temperature in both baths and record. Record the water level in the six pipettes every 5 minutes for 20 minutes.

Table 5.1: Measurement of O2 Consumption by Soaked and Dry Pea Seeds at Room Temperature (250C) and 100C Using Volumetric Methods.

Temp
(oC)
Time
(min)
Beads Alone Germinating Peas

Dry Peas and Beans

Reading at time X Diff* Reading at time X Diff* Corrected Diff. ^ Reading at time X Diff* Corrected diff ^
Initial – 0
0-5
5- 10
10 -15
15-20
Initial – 0
0-5
5- 10
10 -15
15-20

* difference = ( initial reading at time 0) – ( reading at time X )

^ corrected difference = ( initial pea seed reading at time 0 – pea seed reading at time X) – ( initial bead reading at time X).

Analysis of Results:
1. In this investigation, you are investigating both the effect of germination versus non-germination and warm temperature versus cold temperature on respiration rate. Identify the hypothesis being tested in this activity.

_______________________________________________________________________

_______________________________________________________________________

2. This activity uses a number of controls. Identify at least three of the control, and describe the purpose of each control.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

3. Graph the results from the corrected difference column for the germinating peas and dry peas at both room temperature and 100C.

a. What is the independent variable? ____________________________________________________

b. What is the dependent variable? ______________________________________________________

Graph Title: _____________________________________________________________________

Graph 5.1

 

4. Describe and explain the relationship between the amount of oxygen consumed and time.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

5. From the slope of the four lines on the graph, determine the rate of oxygen consumption of germinating and dry peas during the experiments at room temperature and 100C. Recall that rate = delta Y/delta X.

Table 5.2

Condition Show Calculations Here Rate in ml.O2 / min
Germinating Peas/100C  

 

 

 

Germinating peas /Room Temperature  

 

 

 

 

Dry peas/100C  

 

 

 

Dry Peas /Room Temperature  

 

 

 

 

6. Why is it necessary to correct the readings from the peas with the readings from the beads?

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

7. Explain the effect of germination ( versus non-germination) on peas seed respiration.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

8. What is the purpose of KOH in this experiment?

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

9. Why did the vial have to be completely sealed around the stopper?

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

10. If you used the same experimental design to compare the rates of respiration of a 25 g. reptile and a 25 g. mammal, at 100C, what results would you expect/ Explain your reasoning.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

11. If respiration in a small mammal were studied at both room temperature (210C) and 100C, what results would you predict? Explain your reasoning.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

12. Explain why water moved into the respirometer pipettes.

_______________________________________________________________________

_______________________________________________________________________

_______________________________________________________________________

________________________________________________________________________

AP LAB PAGE

 

DNA & Protein Synthesis Chapter 10 Worksheet

 

    DNA & Protein Synthesis

 

Section 10-1 DNA

1. What does DNA stand for?

2. What is DNA’s primary function?

3. What is the function of proteins?

4. What are the repeating subunits called that make up DNA?

5. Name the 3 parts of a DNA nucleotide.

6. Sketch and label a DNA nucleotide.

7. Name the 4 nitrogen bases on DNA.

8. What is the difference between a purine & a pyrimidine?

9. Name 2 purines.

10. Name 2 pyrimidines.

11.Who is responsible for determining the structure of the DNA molecule & in what year was this done?

12. The model of DNA is known as a ____________________________ because it is composed of two ___________________ chains wrapped around each other.

13. What makes up the sides of a DNA molecule?

14. What makes up the “steps” of a DNA molecule?

15. How did Rosalind Franklin contribute to determining the structure of DNA?

16. What type of bonds holds the DNA bases together? Are they strong or weak bonds?

17. What makes up the “backbone” of the DNA molecule?

18. On DNA, a ____________________ base will always pair with a __________________ base.

19. What is the most common form of DNA found in organisms?

20. How many base pairs are in a full turn or twist of a DNA molecule?

21. Name the complementary base pairs on DNA.

22. How many hydrogen bonds link cytosine & guanine? adenine & thymine?

23. How does the nucleotide sequence in one chain of DNA compare with the other chain of DNA?

24. Why must DNA be able to make copies of itself?

25. Define DNA replication.

26. What is the first step that must occur in DNA replication?

27. What acts as the template in DNA replication?

28. What is a replication fork?

29. What enzymes help separate the 2 strands of nucleotides on DNA? What bonds do they break?

30. What is the function of DNA polymerases?

31. ____________________ are joined to replicating strands of DNA by ________________ bonds.

32. If the sequence of nucleotides on the original DNA strand was A – G – G – C – T – A, what would be the nucleotide sequence on the complementary strand of DNA?

33. Does replication of DNA begin at one end and proceed to the other? Explain.

34. Why does DNA replication take place at many places on the molecule simultaneously?

35. When replication is complete, how do the 2 new DNA molecules compare to each other & the original DNA molecule?

36. Is DNA replicated (copied) before or after cell division?

37. Sketch & label DNA replication. (Figure 10-5, page 188)

38. What is the error rate in DNA replication? What helps lower this error rate to 1 in 1 billion nucleotides?

39. What is a mutation?

40. Name several things that can cause DNA mutations.

 

Section 10-2 RNA

 

41. What sugar is found on DNA?

42. What base is missing on RNA, & what other base replaces it?

43. Uracil will pair with what other on DNA?

44. Is RNA double or single stranded?

45. Name the 3 types of RNA and tell the shape of each.

46. Which type of RNA copies DNA’s instructions in the nucleus?

47. Which type of RNA is most abundant?

48. What does tRNA transport?

49. What 2 things make up ribosomes?

50. Define transcription.

51. In what part of a cell are proteins made?

52. What is RNA polymerase & tell its function.

53. What are promoters?

54. Where does RNA polymerase bind to the DNA it is transcribing?

55.What makes the beginning of a new gene on DNA in eukaryotes?

56. What do promoters mark the beginning of on prokaryotic DNA?

57. When a promoter binds to DNA, What happens to the double helix?

58. Are both strands of DNA copied during transcription?

59. As RNA polymerase moves along the DNA template strand, what is being added?

60. What bases pair with each other during transcription?

61. What is the termination signal?

62. What happens when RNA polymerase reaches the termination signal?

63. What are the products of transcription called?

64. Transcripts are actually ____________________________ molecules.

65. In transcription, ________________________’s instructions for making a protein

are copied by _______________________.

66. Which RNA molecules are involved in the synthesis (making) of a protein?

67. What happens to the newly made mRNA molecule following transcription in the nucleus?

 

Section 10-3 Protein Synthesis

 

68. What makes up proteins, what are the subunits called, & what bonds them together?

69. How many different kinds of amino acids make up proteins?

70. What determines how protein polypeptides fold into 3-dimensional structures?

71. Why does a protein need a 3-dimensional structure?

72. What is the genetic code & why is it important?

73. What is a codon & what does each codon code for?

74. How many codons exist?

75. Name the amino acid coded for by each of these codons:

a. UUA

b. AUU

c. UGU

d. AAA

e. GAG

f. UAA

76. What codon starts protein synthesis?

77. What codons stop protein synthesis?

78. Proteins are synthesized (made) at what organelle in the cytosol?

79. Sketch and label a tRNA molecule & tell its function.

80. Define translation & tell how it starts.

81. Where are amino acids found in a cell & how are they transported?

82. What is an anticodon & where is it found on tRNA?

83. What codon on mRNA would bind with these anticodons: (use table 10-1, page 194)

a. AAA

b. GGA

c. UAC

d. CGU

84. What are ribosomes made of and in what 2 places can they be found in a cell?

85. What is the difference between proteins made by free ribosomes & those made by attached, membrane proteins on the ER?

86. How many binding sites are found on the ribosomes and what does each site hold?

87. To start making a protein or _________________________________, a ribosome attaches to the ______________________________ codon on the __________________ transcript.

88. The start codon, AUG, pairs with what anticodon on a tRNA molecule?

89. What amino acid does the start codon always carry?

90. What type of bonds are the ones that attach amino acids to each other in a growing polypeptide?

91. __________________________ are linked to make proteins as a ______________________ moves along the mRNA transcript.

92. What ends translation?

93. Can more than one ribosome at a time translate an mRNA transcript? Explain.

94. What determines the primary structure of a protein?

95. What would the translation of these mRNA transcripts produce?

a. UAA CAA GGA GCA UCC

b. UGA CCC GAU UUC AGC

BACK

 

Writing Lab Notebook Reports

REVISED LAB REPORTS

LAB REPORT RUBRICS

General Instructions:

  1. All labs must be written in pencil and be submitted to the teacher in a spiral notebook.
  2. Always use third person (NO personal pronouns — me, I, you, we, etc.) when writing all parts of a lab report. (USE HE, SHE, THEY, THEIR, THEM, ETC.
  3. The following things should be written clearly in marker on the front cover — “Subject” Lab Notebook, teacher name, student name, period.
  4. Number each page of the spiral notebook in the lower right hand corner.
  5. On Page 1, write the subject, year, student name, class period, and teacher name.
  6. Page 2 should have “Table of Contents” written at the top and two columns, one for “Page” and the other for “Lab Title”.
  7. Begin writing the first lab on page 3 of you notebook. DO NOT WRITE ON THE BACK OF YOUR PAPER!
  8. SKIP A LINE BETWEEN EVERY SECTION!
  9. TITLE and UNDERLINE each section & then begin writing on the NEXT LINE!

Your lab report should be written using the following format: (Be sure to left align & underline headings)

Title (center on top line; on the right of line 2, put date & lab #)
The title should indicate clearly & concisely the subject and scope of the report.

Introduction – 20 points (PARAGRAPH FORM)

  • The introduction should give background information about the experiment.
  • It should also state the purpose of the investigation.
  • This section will be two or more paragraphs in length.

Hypothesis – 20 points (SINGLE SENTENCE)

  • The hypothesis should be a single statement telling the exact thing you are trying to prove in your experiment.
  • NEVER write this statement using “first person”. Write the hypothesis in past tense (third person.)

Materials – 5 points (SINGLE SENTENCE)

  • This section should be written in sentence form and name all of the materials and equipment used.
  • Be sure to include specific amounts and concentrations of chemicals used.
  • Start the statement, “The materials used include _____, _____, etc.”

Methods (Procedure)- 5 points (STEPS; NUMBER)

  • This section includes the step-by-step procedures used.
  • The procedure should be so thorough that someone else could use your listed materials and procedures to conduct the same experiment and get the same results.

Results (Data & Questions) – 20 points

  • All data should be collected and organized in a logical order. Results should be illustrated as charts, tables, graphs, &/or diagrams. All graphs should include a title, the independent variable labeled on the horizontal axis, and the dependent variable labeled on the vertical axis.
  • All lab questions and answers should be included also with this section. ( NUMBER & UNDERLINE the questions & then write, but DON’T UNDERLINE the answers)
  • SKIP ONE LINE BETWEEN EACH QUESTION!

Error Analysis

  • Include any important factors that you think may have actually affected your results.

Discussion and Conclusion – 30 points

Discussion is the most important part of your report, because here, you show that you understand the experiment beyond the simple level of completing it.!!

  • Your conclusion MUST CONTAIN YOUR SUPPORTING DATA!
  • This is where you give a detailed account of what happened in the experiment.
  • Explain all observations and results in your experiment.
  • Analyze and interpret why these results were obtained.
  • Be sure to tell the significance or meaning of the results.
  • Restate the original hypothesis and explain whether the experiment succeeded. If the hypothesis was not correct, you should analyze why the results were not as predicted.
  • Explain experimental errors that appear in the results.

QUESTIONS MUST BE ANSWERED & CONCLUSION WRITTEN TO RECEIVE LAB CREDIT!

Additional help with Conclusions

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