Bios 105(W)  Human Genetics

DePauw University
Instructor: Chet Fornari                                                                   Lecture: MWF 9:00am, rm215
Olin 232, x4781; CFORNARI                                                           Lab: W 2-4pm, rm 205/215

Text: Human Genetics by Ricki Lewis. W.C. Brown Communications

Recommended source books: Genethics: the Ethics of Engineering Life by D. Suzuki and P. Knudston. 1990, Harvard Univ. Press. Family Genetic Sourcebook or Practical Guide to Human Heredity (two different titles for the same book!) by Benjamin A. Pierce. 1990, Wiley & Sons publishers.

Course Content

Bios 105 focuses on the role of genes in human biology. Selected areas of emphasis range from gene structure and identification, through inheritance mechanisms (how genes are passed from parent to offspring), to how genes work within the cellular evironment, to what can go wrong with genes (mutations) and the consequences of these malfunctions (genetic diseases), to the genetic stucture of whole populations, and finally to ethical, legal and social issues surrounding the application of the new genetic engineering technologies. We will cover the three basic areas of modern genetics (molecular genetics, transmission genetics, population genetics) but focus primarily on humans.

Writing Content

Bios 105(W) is a W-course; you will be expected to write competently within the areas defined and described on page 3. All areas must be completed satisfactorily in order to receive the W-credit. In addition, you must satisfactorily complete the exams in order to pass the course and receive the W-credit.

Lecture Schedule
(Week)                                        Part I: Introduction (chs.1-3)

1(J29) Ch.1, p.3-13; PKU--symptoms and causes; PKU as a "model" genetic disease; some genetic terminology; genetic basis of some interesting human traits.
Ch.2, p.15-24 Cystic fibrosis; cell structure and chemistry; organelles and cellular architecture.
2(F4) Ch.2, p.24-31 Signal transduction, the cell cycle, mitosis and its control.
Ch.3, p.33-51 Meiosis; origins of sperm and ova cells; gamete maturation; progerias and Alzheimer's disease.

Part II: Transmission Genetics (chs.4-6)
3(F11) Ch.4, p.53-74; Mendel's experiment's and the laws of segregation and independent assortment; monohybrid and dihybrid crosses; basic probability methods; gene interactions; effect of environment on gene expression.
Ch.5, p. 75-80; Genetic Linkage and using linkage to map genes.

4(F18) Ch.5, p. 80-92; Factors determining sex, and sex-linked modes of inheritance.
Ch.6, p. 93-109; Multifactorial traits and the nature vs. nurture debate; measuring multifactorial traits; methods used to study multifactorial traits; genetic consequences of multifactorial traits.

Part III: DNA and Chromosomes (chs.7-10)
5(F25) Ch. 7, p. 111-134; Experimental history of the discovery of DNA structure; molecular structure of DNA and its functional implications; DNA replication; DNA repair systems.
Ch.8, p. 135-143; The transcription process; types of RNA molecules made by transcription.

6(M3) Ch. 8, p. 143-152; Translation of mRNA into protein; the Genetic Code and its properties.
Ch. 9, p.153-171; Defining and characterizing mutations; consequences of mutation sites on the phenotype; origins and causes of mutations; types of mutations; protection against mutations.

7(M10) Ch.10, p.173-192; Sructure and organization of human chromosomes; procedures used to study chromosomes; using chromosome structure variations to diagnose disease; some genetic disorders related to abnormal chromosome structures.

Part IV: Population Genetics (chs.11-13)
8(M17) Ch.11, p.193-206; The Hardy-Weinberg equilibrium and its demonstration in "real" populations; using H-W to calculate allele frequencies; H-W and DNA fingerprinting; population statistics.

9(M24) Spring Break! -----------------------------------------------------------------------------------

10(A1) Ch.12, p. 207-221; The affects of human behavior on gene frequencies; effects of migration, drift, mutation, and natural selection on H-W equilibrium; tracing genetic disorders and heritages by mutational analyses and theories of population genetics.
Ch.13, p. 223-240; Tracing the origins of the human species; molecular evolution's contribution to the construction of phylogenetic trees; mitochondrial DNA and the evolutionary "Eve"; the good and the bad sides of eugenics.

Part V: Cancer (ch.15)

11(A7) Ch.15, p. 263-275; The evidence for cancer as a genetic disorder; characteristics of cancer cells; specific genes in cancer development; some examples of human cancers and their genetic origins.

Part VI: Genetic Technology (chs.16,17,19,20)

12(A14)Ch.16, p. 279-292; Biotechnology and Recombinant DNA; cloning technologies and their applications; using recombinant DNA technology to correct genetic defects.

13(A21)Ch.19, p.321-338; Using DNA probes to detect RFLP and VNTR polymorphisms--applications to disease diagnosis and forensic medicine; constructing genetic maps; positional cloning strategies to isolate unknown genes; finding the genes for Duchenne Muscular Dystrophy and Cystic Fibrosis.

14(A28)Ch.20, p.341-356; Alternative ways of conceiving a child; causes of infertility; new reproductive technologies for infertile couples.

15(M5) Ch.17, p.293-304; Advances in gene therapy through recent cases; types of gene therapies and solutions for genetic diseases; possible sites in the body for gene therapies; treating cancer.

Exam Schedule: Exam #1 (25%)------March 6th, Wed., 2-4pm*

Exam #2 (30%)------April 10th, Wed., 2-4pm*

Exam #3 (35%)------Finals Week

Presentations and participations (10%)------(see below for schedules)

*Exams during scheduled lab periods in room 215 or 241

W-Activities and Requirements, or WAR!

By way of the three writing assignment areas described below, you will progress from purely expository writing (Concept of the Week, in Area I), to accurately summarizing and evaluating an author's position (Feature Article/Summary, Evaluation, Discussion in Area II) to a well-researched position paper of your own in Area III. The writing assignments are designed to help you achieve the final goal of writing a research/discussion paper (your position paper) in the discipline of human genetics. I will expect a rather high level of writing and analytical competence in your final paper. You must demonstrate competence in both writing (and clear thinking), as well as a thorough understanding of content in human genetics, which you will acquire throughout the semester from the lectures and the textbook.

Please note:

1.Each of you must keep all your writing assignments, including any rough drafts, notes, etc., on one, labeled disk. In one sense, you will be keeping a type of journal of your on-going and completed work. I will collect these disks at the end of the semester.

2. All W-assignments must be word-processed and double spaced on standard 8.5 by 11 inch paper. All assignments must meet minimum page requirements (with no more than 1 inch margins) and other format requirements as indicated below.

Area I: Concept of the Week (CoW)

Area II: Feature Article/ Summary Evaluation Discussion (FA/SED)

Area III: Write a 10 page(d.s.), referenced, position paper on a topic of your choice.

A more detailed description of the writing assignment areas follows:

Area I description and schedule: The author of your text provides four types of questions or problems at the ends of all chapters---concepts, bioethics, case histories, research problems. Every other Friday, you will choose one or more "concepts" from the concept section at the end of each chapter (even numbered ones only). You will write a 1 to 2 page explanation of the concept in your own words. Your intended audience is someone such as your roommate, or your fellow students in Bios 105. The main point here is that I (Prof. Fornari) am not your audience. It is extremely important to keep your intended audience in mind as you write your explanation of the assigned concept. You may be as creative as you desire in your explanations (for example, through the use of metaphors, concrete, "real-life" examples, fanciful abstractions, original models, etc.). But remember that the concepts are rooted in experimental results and tested hypotheses and are therefore not pure fiction (let's hope not, anyway!). Your task is to explain as simply and as clearly as possible some of the fundamental concepts in genetics and biology. Remember your audience!

In addition to the concept explanation, you will choose one other question or problem from the remaining three categories of the end-of-the-chapter questions: bioethics, case histories, or research problem (even-numbered only). Once again, prepare a 1 or 2 page full explanation or solution for your selection. And once again, remember your audience! I suggest that you co-ordinate your choices and choose a concept that relates to a bioethics question, or a case history, or a research problem. (I will provide more detailed explanations of this Area assignment in class, as we initially examine the textbook)

On the following Wed., I will randomly call on several students to read word-for-word what they have written about one or more of the assigned concepts, etc. After each reading, there will be a short discussion period for comments, constructive criticisms, etc. At the end of the class period, I will collect all the CoW's.

Area II: Sometime during the week you will find a Feature Article from some popular publication (see list below for some examples) and write a 2 page (minimum) summary/evaluation/discussion (SED) of this article. Be prepared to read your FA/SED to the class on any Wed. In your SED, be sure to answer the following questions:

a. What is the main topic? (It might be helpful to identify the topic sentence or paragragh). If the article is purely descriptive, then your task is to clearly, in your own words, summarize the author's description. In other words, you should break down the description into its component parts (Divide and Conquer!) and in your own words, summarize the key elements in the main topic. Then show how these essential elements do or do not accurately support (describe) the main topic.

b. What is the author's point-of-view, perspective, or "opinion" on the main topic? If the author is not merely describing something or someone, and obviously has an argument or particular point of view to defend, support, or promote, and is perhaps acting as a propagandist, then you must clearly state the main issue, describe why it is controversial, and give all the reasons why the author favors one position over another. These reasons should include (1)actual data, especially if it is a controversial scientific explanation, (2)facts, examples and statistics, (3)incidents, and any similar, convincing pieces of evidence, (4)other arguments and reasons stated by individuals (other than the author) quoted in the article.

c. Did the author use clear and logical thinking and reasoning in her description or arguments? Are the "facts" and other evidence accurate and true? In other words, are the data, facts, examples, statistics, incidents, or arguments questionable? Should the author better substantiate the data, etc. before attempting to draw conclusions from them? Do the conclusions follow logically and clearly from the supplied information (data, facts, etc.)?  Is the author biased, and making unwarranted assumptions (opinions), or using unsubstantiated data (opinions again). In other words, do the author's claims sound more like impassioned opinions, or well-researched and carefully documented arguments supporting or refuting clearly articulated assertions?

d. Do you agree or disagree with the quality of the author's description, or the position taken by the author? Why do you agree, or why do you disagree? Suggest a more accurate description, or clearly indicate your own position with respecet to the main issue.

Format for your FASED papers: (2 pages minimum, double-spaced)

Your Name:


Full Title of the Article and full name of author(s):

Date of publication and sources (names of sources, volume #, page #,s,etc.):

An important note on point (b.) above: Discovering the "voice" of authors by critically reading their works, and describing and evaluating these "voices" in writing exercises is an extremely important consideration of any good text analysis. The author's "voice" encompasses her position, attitudes and intentions, among other things. Discovering that voice is an attempt to answer the more vernacular question, "where is she coming from anyway?" In order to discover the author's voice, you must also address WHO the author is, WHAT she is writing about (content), WHEN she is writing, WHERE she is writing (or what is the context or particular set of circumstances under which the author writes), HOW she is writing, or what particular rhetorical approach is the author using, and WHY she is writing, or what is the author's purpose (especially relevant to the author's intentions, which often stem from attitudes and feelings, as well as data and evidence).

All of the above points touch upon the acknowledged elements of rhetoric and communication. These elements have been described and analyzed by many experts in these areas, but all seem to agree that 3 or 4 essential elements constitute the basic structure for authoring texts by way of rhetoric: a writer (the author, sender, or encoder) prepares a text (the story, message or signal) for an audience (the readers or receivers) in the context of the "real" world. All of these elements interact to provide meaning to the message or text, and the various elements are often found in variable amounts or ratios in any given piece of writing.

The WHO, WHAT, WHEN, WHERE, HOW, and WHY elements (a kind of journalistic formula for writing) derive from the 4 more basic elements. Of course you must never forget the author's or sender's "voice" in any text or message you (a member of an audience) receive and assimilate by reading or listening. In other words, authors (persons with attitudes and other relevant attributes) put forth propostions, grounded in both content, or reality, and logic.

A reminder to never forget the author's "voice" may appear to border on so-called ad hominem arguments, i.e., disparaging or villipending the bearer of the message, the messenger, instead of the message (attacking the person instead of the proposition). A moment's reflection should indicate that perhaps the importance of the "voice" varies with the type of writing. How important is the author's voice when analyzing a novel, or a play, or a journal article in human genetics? One would expect the influence of the "voice" to vary with the content or intention of the writing; one would expect the influence of "fact" and "evidence" to vary with the nature of the writing. But is scientific writing immune to "voice?" Can one disregard reality when writing even fiction, when you the reader (receiver) must be coaxed and persuaded by the author (the sender) into suspending your current notions of "reality" as well as your judgements of that reality? To what degree does the author's particular culture, or social environment affect her voice? We will try to answer these questions as the semester progresses, by discussing your writing assignments.

One last note about your FA/SED's: try to choose an article that is close in theme to the CoW (a concept, bioethics issue, case history, or research problem). I realize this is not always possible, so do not let this suggestion prevent you from choosing an interesting, but unrelated article.

Area III: Your 10 page, double-spaced, word-processed position paper, supported by data and argument, will address some controversial issue in Genetics. This paper will be a well-referenced, expository piece of writing (as opposed to narrative, descriptive, dramatic, or informal, etc.). I suggest that you examine the Genethics book for a source of both ideas and references. You will write this paper towards the end of the semester, when you should be more familiar with your textbook, human genetics in general, and perhaps the book by Suzuki and Knudston. Your FA/SED's should provide you with both ideas and practice for the actual writing, especially if you regularly choose controversial issues for your FA/SED's rather than purely descriptive articles. We will discuss the details of this assignment later in the semester.

List of possible sources for your FA/SED's and Area III assignment:

These sources are only a few of the possible sources for interesting articles; you should by all means consult the Reader's Guide to Periodical Literature for all the articles written on a given subject area or topic.

Accessing a myriad of World Wide Web (www) sites on the Internet will lead you to a seemingly infinite number of sources and ideas. Early in the semester, I will help you to access these sites for your research by providing you with sites I already have "bookmarked" and by demonstrating how to find new sites. Once a site is found, powerful search functions will provide you with numerous references and other relevant information.

References for some of the ideas expressed in the Area descriptions:

1. John E. Warriner and Francis Griffith. 1963. English Grammar and Composition. Harcourt, Brace, and World, Inc.

2. Andrea Lunsford and Robert Conners.1989. The St. Martin's Handbook; the annotated instructor's edition prepared by C. Glenn, et. al. St. Martin's Press, Inc.

3. Humanities Faculty of Earlham College. 1995. the Humanities Program at Earlham College. Printed and published at Earlham College, Richmond, Indiana.