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Unit 7: Heredity, Structure and Function - Discussion
Mutations are changes that occur within the genes of an
organism. Sometimes these mutations impact a single gene,
while other mutations impact the number or structure of entire
chromosomes. Because many mutations change just one tiny
piece of information in one single piece of DNA, they usually
do not cause any problems. For example, imagine if someone
sent you a long e-mail and accidentally misspelled the word
"friend" as "freind." You would still understand the e-mail and
would probably still even catch the original meaning - this is a
good analogy for what happens with a point mutation, where
just one part of a gene is changed.
However, sometimes a single mistake can make a big
difference. Imagine if, while composing a long e-mail, you
accidentally select and delete an entire paragraph, or perhaps
auto-correct changes a critical word. You can imagine (and
perhaps have even experienced) how such a mistake might cause
great confusion and miscommunication.
Many genetic disorders are caused by changes to a single gene
in the form of a point mutation or due to a chromosomal
abnormality like a chromosome disorder. Sometimes these
mutations are passed from one generation to the next, just like
other harmless traits like eye color and blood type. These
mutations may cause specific disorders, or they may predispose
a person to a common disease like cancer or heart disease.
Learn about some basic patterns of inheritance by opening the
chapter resources then selecting "Animations and
Demonstrations." Use the interactive labeled "Inheritance of
Individual Traits."
Unit 7 Discussion
Watch the following videos to learn more about genetics and
the implications of our genetic knowledge: Our Molecular
Selves: http://www.youtube.com/watch?v=_EK3g6px7Ik&lr
=1&uid=Up6Pd9fx8_UX7S38Ih_JqA
Video transcript: http://www.genome.gov/25520211
Ethical, Legal, and Social Implications of Genetic Knowledge:
http://www.youtube.com/watch?v=Apjebtal8bQ&lr=1&uid=Up6
Pd9fx8_UX7S38Ih_JqA
Video transcript: http://www.genome.gov/25019880
During the week, select only ONE option (either Option I or
Option II) and discuss the following with your classmates. Be
sure to use the provided course materials and feel free to share
additional information you find through your own research.
Discussion Topic Option I:
· Describe a physical trait you possess that you could
potentially pass on to your own children. Using what you
learned from the Inheritance of Individual Traits animation,
consider the following. Let’s pretend you have 4 children, and 2
of the 4 children also possess your characteristic. Meanwhile
the other biological parent of your children does not possess the
trait.
· Do you think this trait could be dominant or recessive?
· Based upon your response, describe why it would or would not
be possible for this trait to “skip” a generation.
· Patterns of inheritance within organisms like pea plants, fruit
flies, mice, and others are somewhat easy to determine since we
can easily control their mating practices. Apart from controlling
who mates with who, what other characteristics make species
like these ideal for studying genetics?
· What are some of the challenges when studying human
inheritance of traits like the one you chose for this scenario?
Discussion Topic Option II:
· Describe a health problem that you believe has a genetic
component (at least partially inherited). Would you be
interested in having genetic testing to determine whether you
carry a genetic mutation for a particular disorder or a genetic
predisposition for a disease? Why/why not? What are the
advantages and disadvantages of determining your
predisposition?
· Using the resources provided in the prompt and in the unit’s
web resources, explore the current state of research for the
health problem you described above. If you did not identify an
inherited health condition within your family, then choose a
disease that interests you or impacts a friend or other family
member.
· Focus only on one of the following as they relate to the
genetics of the disease.
· Share what you learn regarding research into the disease and
look for similarities between the diseases you and your
classmates describe:
· Cause
· Testing/Screening/Prevention
· Treatments/Therapies/Cures
Remember to read the Discussion requirements, found in the
Unit 7 "Directions" Icon.
Reference:
Trefil, J., & Hazen, R.M. (2011). The Sciences: An integrated
approach. Hoboken, NJ: John Wiley & Sons, Inc.
·
Topic 1: Middle Range Theories (Due on Friday 11/29 by 7pm)
Select one of the Middle Range Nursing theories from Unit 7
overview and create a model case scenario, in which you will
apply all or one of the following from the theory: concept,
metaparadigm, and/or usefulness. Provide the background of the
theorist and any concepts that developed from applying the
theory to the model case scenario. Explain how you could apply
this same theory into your advanced nursing role? After
examining you model case scenario, what do you consider to be
the strong or weak points to this theory?
You can use the following theorist:
MARGARET NEWMAN
Margaret Newman discovered her original interest in nursing
during a time when she cared for her mother, who was
terminally ill with Amyotrophic Lateral Sclerosis (also known
as Lou Gehrig’s disease). She stated that even during her first
day in nursing classes at the University of Tennessee in
Memphis, she was invigorated by and excited with her selection
of a profession. She obtained her baccalaureate degree in
nursing in 1961 and then her master’s degree at the University
of California in San Francisco in 1964. She then obtained a
doctoral degree in nursing in 1971 from New York University,
where she was a student and a colleague of Martha Rogers. She
reported that over the years she had been assembling a theory of
health, which she initially presented at a nursing conference.
From her positive reception at the conference, she enhanced her
thoughts about health into her theory of health as expanding
consciousness. Currently, she continues work on her theory
while retired from being faculty at the University of Minnesota.
She continues to extol nursing as a profession, which is very
demanding, requiring the “best of my intellect as well as the
utmost of my humanness” (Newman, 1994, p.153). Her theory
evolved, as she states, from a “concern for those for whom
health as the absence of disease or disability is not possible”
(Newman, 2003, p. 241).
Topic 2: Research and Practice (Due on Friday 11/29 by 7pm)
Explain why we need to continue to examine and promote the
use of middle range theories in research and practice.
PowerPoint Presentation (Due on Monday 12/2 by 2pm)
Nursing Theorist Presentation
Please use Sister Callista Roy's Adaptation Model
Description
Each student will prepare a presentation using Microsoft®
PowerPoint® that explores and
describes one nursing theorist. You will choose a nursing
theorist from your textbook that you
have not presented in response to your earlier Discussion Board
postings.
Directions:
The presentation using Microsoft PowerPoint® will include:
(number of slides is in parentheses, ex. (2–3) meaning two to
three slides are sufficient)
framework (1–2)
he theory or model (1–2)
including pertinent experiences
in the background of the theorist as a nurse scholar that might
have prompted the
development of the theory (1–2)
ion of the concepts of the theory,
including (3–4):
o How are human beings defined and described?
o How is environment defined and described?
o How is health defined?
o How are wellness and illness differentiated?
o How is nursing defined?
o What is (are) the goal(s) of nursing?
nursing metaparadigm (1)
{usually a drawing}
(1–2)
–2)
Length: 10–16 slides (with a separate reference slide)
PowerPoint® 2007 (pptx)
Speaker Notes Length: 50–100 words for each slide
Each student posts the PowerPoint® presentation to “Doc
Sharing” for review by colleagues
and faculty.
Each individual should provide the reference list (Word doc)
used to develop the presentation,
using APA format, into the Unit 7 Assignment Dropbox.
Grading Rubric…sorry this was the best I could do….
Unsatisfactory
Satisfactory
Above Average
Excellent
Total
Points
Content
The historical development of the model/theory assigned does
not have an overview and is not described.
The model/theory is not identified or described.
The theorist’s name and background are not stated or described.
Concepts of the model/theory and their relationships are not
stated or described.
Strengths and weaknesses are not identified or described.
Central values and beliefs are not identified or described.
A practice example is not given or supported.
Content of slides is not accurate.
The historical development of the model/theory assigned has a
brief overview, but not described.
The model/theory is identified but not described.
The theorist’s name and background are stated briefly but not
described.
Concepts of the model/theory are identified but not described;
relationships to model/theory are not stated.
Strengths and weaknesses are identified but not described.
Central values and beliefs are identified but not described.
A practice example is cited from the references.
Content of slides is accurate with a few errors.
The historical development of the model/theory assigned is
described; focus could be clearer.
The model/theory is described, but focus could be clearer and/or
the description more concise.
The theorist’s name and background is described; focus needs to
be clearer.
Concepts and their relationship to the model/theory are
discussed; the focus needs to be clearer and/or more detail is
needed.
Strengths and weaknesses are described; focus needs to be
clearer.
Central values and beliefs are described; focus needs to be
clearer.
A practice example is given; focus needs to be clearer and/or
more detail is needed.
Content of slides is accurate with rare errors.
The historical development of the model/theory assigned is
described.
The model/theory is described.
The theorist’s name and discussion of background are
presented.
Concepts and their relationship to the model/theory are
discussed.
Strengths and weaknesses of the model/theory are described.
Central values and beliefs depicted in the model/theory are
described.
An original practice example is given.
Content of slides is accurate.
0
48
56
60
of 60
Format/Style
Slides rarely contain appropriate amount of content (either too
much or too little).
Overall, most of the presentation is not integrated and
organized.
Overall slides are inadequate in appearance and tone; many
areas need style improvement.
Content of slides has numerous grammatical, punctuation,
proofreading, and other errors; references list has frequent
inconsistencies with APA format.
Slide presentation beyond recommended number + 5.
Speaker notes missing from presentation.
Some slides contain appropriate amount of content with few
exceptions.
Overall, some of the presentation is integrated and organized.
Overall, slides are adequate in appearance and tone; some areas
need style improvement.
Content of slides is free from grammatical, spelling,
punctuation, proofreading, and other errors; references list is
consistent with APA format with few exceptions.
Slide presentation beyond recommended number + 3.
Speaker notes less than 50- 100 words per slide.
Most slides contain appropriate amount of content with few
exceptions.
Overall, most of presentation is integrated and organized.
Most of the slides are professional in appearance and tone with
rare exceptions.
Content of slides is free from grammatical, spelling,
punctuation, proofreading, and other errors; references list is
consistent with APA format with rare exceptions.
Slide presentation beyond recommended number + 2.
Speaker notes present 50- 100 words on more than half of the
total slides per presentation.
Slides contain appropriate amount of content.
Overall, presentation is integrated and organized.
Slides are professional in appearance and tone.
Content of slides is free from grammatical, spelling,
punctuation, proofreading, and other errors; references list is
consistent with APA format.
Slide presentation is between 12-16 slides.
Speaker notes present with 50- 100 words per slide.
0
20
35
40
of 40
Total points
of 100
Percent Accomplished
150 points x ____%

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  • 1. Unit 7: Heredity, Structure and Function - Discussion Mutations are changes that occur within the genes of an organism. Sometimes these mutations impact a single gene, while other mutations impact the number or structure of entire chromosomes. Because many mutations change just one tiny piece of information in one single piece of DNA, they usually do not cause any problems. For example, imagine if someone sent you a long e-mail and accidentally misspelled the word "friend" as "freind." You would still understand the e-mail and would probably still even catch the original meaning - this is a good analogy for what happens with a point mutation, where just one part of a gene is changed. However, sometimes a single mistake can make a big difference. Imagine if, while composing a long e-mail, you accidentally select and delete an entire paragraph, or perhaps auto-correct changes a critical word. You can imagine (and perhaps have even experienced) how such a mistake might cause great confusion and miscommunication. Many genetic disorders are caused by changes to a single gene in the form of a point mutation or due to a chromosomal abnormality like a chromosome disorder. Sometimes these mutations are passed from one generation to the next, just like other harmless traits like eye color and blood type. These mutations may cause specific disorders, or they may predispose a person to a common disease like cancer or heart disease. Learn about some basic patterns of inheritance by opening the chapter resources then selecting "Animations and Demonstrations." Use the interactive labeled "Inheritance of Individual Traits."
  • 2. Unit 7 Discussion Watch the following videos to learn more about genetics and the implications of our genetic knowledge: Our Molecular Selves: http://www.youtube.com/watch?v=_EK3g6px7Ik&lr =1&uid=Up6Pd9fx8_UX7S38Ih_JqA Video transcript: http://www.genome.gov/25520211 Ethical, Legal, and Social Implications of Genetic Knowledge: http://www.youtube.com/watch?v=Apjebtal8bQ&lr=1&uid=Up6 Pd9fx8_UX7S38Ih_JqA Video transcript: http://www.genome.gov/25019880 During the week, select only ONE option (either Option I or Option II) and discuss the following with your classmates. Be sure to use the provided course materials and feel free to share additional information you find through your own research. Discussion Topic Option I: · Describe a physical trait you possess that you could potentially pass on to your own children. Using what you learned from the Inheritance of Individual Traits animation, consider the following. Let’s pretend you have 4 children, and 2 of the 4 children also possess your characteristic. Meanwhile the other biological parent of your children does not possess the trait. · Do you think this trait could be dominant or recessive? · Based upon your response, describe why it would or would not be possible for this trait to “skip” a generation. · Patterns of inheritance within organisms like pea plants, fruit flies, mice, and others are somewhat easy to determine since we can easily control their mating practices. Apart from controlling who mates with who, what other characteristics make species like these ideal for studying genetics? · What are some of the challenges when studying human inheritance of traits like the one you chose for this scenario? Discussion Topic Option II: · Describe a health problem that you believe has a genetic
  • 3. component (at least partially inherited). Would you be interested in having genetic testing to determine whether you carry a genetic mutation for a particular disorder or a genetic predisposition for a disease? Why/why not? What are the advantages and disadvantages of determining your predisposition? · Using the resources provided in the prompt and in the unit’s web resources, explore the current state of research for the health problem you described above. If you did not identify an inherited health condition within your family, then choose a disease that interests you or impacts a friend or other family member. · Focus only on one of the following as they relate to the genetics of the disease. · Share what you learn regarding research into the disease and look for similarities between the diseases you and your classmates describe: · Cause · Testing/Screening/Prevention · Treatments/Therapies/Cures Remember to read the Discussion requirements, found in the Unit 7 "Directions" Icon. Reference: Trefil, J., & Hazen, R.M. (2011). The Sciences: An integrated approach. Hoboken, NJ: John Wiley & Sons, Inc. · Topic 1: Middle Range Theories (Due on Friday 11/29 by 7pm) Select one of the Middle Range Nursing theories from Unit 7
  • 4. overview and create a model case scenario, in which you will apply all or one of the following from the theory: concept, metaparadigm, and/or usefulness. Provide the background of the theorist and any concepts that developed from applying the theory to the model case scenario. Explain how you could apply this same theory into your advanced nursing role? After examining you model case scenario, what do you consider to be the strong or weak points to this theory? You can use the following theorist: MARGARET NEWMAN Margaret Newman discovered her original interest in nursing during a time when she cared for her mother, who was terminally ill with Amyotrophic Lateral Sclerosis (also known as Lou Gehrig’s disease). She stated that even during her first day in nursing classes at the University of Tennessee in Memphis, she was invigorated by and excited with her selection of a profession. She obtained her baccalaureate degree in nursing in 1961 and then her master’s degree at the University of California in San Francisco in 1964. She then obtained a doctoral degree in nursing in 1971 from New York University, where she was a student and a colleague of Martha Rogers. She reported that over the years she had been assembling a theory of health, which she initially presented at a nursing conference. From her positive reception at the conference, she enhanced her thoughts about health into her theory of health as expanding consciousness. Currently, she continues work on her theory while retired from being faculty at the University of Minnesota. She continues to extol nursing as a profession, which is very demanding, requiring the “best of my intellect as well as the utmost of my humanness” (Newman, 1994, p.153). Her theory evolved, as she states, from a “concern for those for whom health as the absence of disease or disability is not possible” (Newman, 2003, p. 241). Topic 2: Research and Practice (Due on Friday 11/29 by 7pm)
  • 5. Explain why we need to continue to examine and promote the use of middle range theories in research and practice. PowerPoint Presentation (Due on Monday 12/2 by 2pm) Nursing Theorist Presentation Please use Sister Callista Roy's Adaptation Model Description Each student will prepare a presentation using Microsoft® PowerPoint® that explores and describes one nursing theorist. You will choose a nursing theorist from your textbook that you have not presented in response to your earlier Discussion Board postings. Directions: The presentation using Microsoft PowerPoint® will include: (number of slides is in parentheses, ex. (2–3) meaning two to three slides are sufficient) framework (1–2) he theory or model (1–2) including pertinent experiences in the background of the theorist as a nurse scholar that might have prompted the development of the theory (1–2) ion of the concepts of the theory, including (3–4): o How are human beings defined and described? o How is environment defined and described? o How is health defined?
  • 6. o How are wellness and illness differentiated? o How is nursing defined? o What is (are) the goal(s) of nursing? nursing metaparadigm (1) {usually a drawing} (1–2) –2) Length: 10–16 slides (with a separate reference slide) PowerPoint® 2007 (pptx) Speaker Notes Length: 50–100 words for each slide Each student posts the PowerPoint® presentation to “Doc Sharing” for review by colleagues and faculty. Each individual should provide the reference list (Word doc) used to develop the presentation, using APA format, into the Unit 7 Assignment Dropbox. Grading Rubric…sorry this was the best I could do…. Unsatisfactory Satisfactory Above Average Excellent Total Points Content The historical development of the model/theory assigned does not have an overview and is not described.
  • 7. The model/theory is not identified or described. The theorist’s name and background are not stated or described. Concepts of the model/theory and their relationships are not stated or described. Strengths and weaknesses are not identified or described. Central values and beliefs are not identified or described. A practice example is not given or supported. Content of slides is not accurate. The historical development of the model/theory assigned has a brief overview, but not described. The model/theory is identified but not described. The theorist’s name and background are stated briefly but not described. Concepts of the model/theory are identified but not described; relationships to model/theory are not stated. Strengths and weaknesses are identified but not described. Central values and beliefs are identified but not described.
  • 8. A practice example is cited from the references. Content of slides is accurate with a few errors. The historical development of the model/theory assigned is described; focus could be clearer. The model/theory is described, but focus could be clearer and/or the description more concise. The theorist’s name and background is described; focus needs to be clearer. Concepts and their relationship to the model/theory are discussed; the focus needs to be clearer and/or more detail is needed. Strengths and weaknesses are described; focus needs to be clearer. Central values and beliefs are described; focus needs to be clearer. A practice example is given; focus needs to be clearer and/or more detail is needed. Content of slides is accurate with rare errors. The historical development of the model/theory assigned is described. The model/theory is described. The theorist’s name and discussion of background are presented.
  • 9. Concepts and their relationship to the model/theory are discussed. Strengths and weaknesses of the model/theory are described. Central values and beliefs depicted in the model/theory are described. An original practice example is given. Content of slides is accurate. 0 48 56 60 of 60 Format/Style Slides rarely contain appropriate amount of content (either too much or too little). Overall, most of the presentation is not integrated and organized. Overall slides are inadequate in appearance and tone; many areas need style improvement. Content of slides has numerous grammatical, punctuation,
  • 10. proofreading, and other errors; references list has frequent inconsistencies with APA format. Slide presentation beyond recommended number + 5. Speaker notes missing from presentation. Some slides contain appropriate amount of content with few exceptions. Overall, some of the presentation is integrated and organized. Overall, slides are adequate in appearance and tone; some areas need style improvement. Content of slides is free from grammatical, spelling, punctuation, proofreading, and other errors; references list is consistent with APA format with few exceptions. Slide presentation beyond recommended number + 3. Speaker notes less than 50- 100 words per slide. Most slides contain appropriate amount of content with few exceptions. Overall, most of presentation is integrated and organized. Most of the slides are professional in appearance and tone with rare exceptions. Content of slides is free from grammatical, spelling, punctuation, proofreading, and other errors; references list is consistent with APA format with rare exceptions.
  • 11. Slide presentation beyond recommended number + 2. Speaker notes present 50- 100 words on more than half of the total slides per presentation. Slides contain appropriate amount of content. Overall, presentation is integrated and organized. Slides are professional in appearance and tone. Content of slides is free from grammatical, spelling, punctuation, proofreading, and other errors; references list is consistent with APA format. Slide presentation is between 12-16 slides. Speaker notes present with 50- 100 words per slide. 0 20 35 40 of 40 Total points of 100