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BioSci 11108 HUMAN HEREDITY Winter 2005 Schedule
BSLC 001. MWF 11:30-12:30
Instructor: B. Strauss, CLSC 115E, 702-1628
TA's: Alison Adams >
Damian Ekiert <>
Sarah Moorhead <>
Katinka
web site:
Text: Lewis, Ricki 2005. Human Genetics. Concepts and Applications. Sixth Edition. McGraw Hill Pub. ISBN 0-07-284605-4
Wk / Date / Lecture Topic / Text pages / DUE1 / 01/03 / Introduction. Sources and how to cite them. Biological principles / 1-18
01/05 / Cells / 21-33; 235-245
01/07 / Chromosomes / 239-250
2 / 01/10 / Cell division: Mitosis / 34-37
01/12 / Cell Division: Meiosis / 115-120
01/14 / Development: Stem cells / 29-70
3 / 01/17 / Sexual Differentiation / 111-118 / 1st Abstract due
01/19 / Patterns of Inheritance, X-linkage / 118-131 / Abstracts returned
01/21 / Mendelian Inheritance / 73-108
4 / 01/24 / Blood Groups / 95-96,330-332
01/26 / Non-disjunction / 250-255
01/28 / Structural chromosome aberrations / 255-263
5 / 1/31 / Translocations / 171-183
02/02 / Fragile X and similar diseases / 183-186,268-274; 229-230 / 1st paper due
11:30AM
02/04 / EXAMINATION
6 / 02/07 / MIDWINTER BREAK
02/09 / DNA / 185-201
02/11 / The Genetic Code / 185-213
7 / 02/14 / Genetic Technology / 373-390
02/16 / Genetic Technology: gene therapy and genetic counseling / 391-408
02/18 / DNA cloning and Gene Engineering / 389-424; 425437
8 / 02/21 / Reproductive technologies / 409-422 / 2nd paper Topic & Abstract due
02/23 / Evaluation of dose dependent hazards / 215-226 / Abstracts returned
02/25 / Genes and cancer / 353-371
9 / 02/28 / Gene Frequency / 267-280
03/02 / Hardy-Weinberg law / 267-280
03/04 / Genetics of populations / 281-302
10 / 03/07 / Multi-genic traits (Moorhead?) / 133-152
03/09 / Multi-genic traits (Vigh?) / 153-166 / 2nd paper due
11:30AM
03/11 / READING PERIOD
11 / 03/14 / Graded 2nd papers available
03/18 / Friday. FINAL EXAM (second hour exam)
10:30-12:30 / Revision of all papers due
The course grade is arrived at as follows: Two hour examinations (100 points each= 200) Two papers (First paper abstract 25 points, paper 125 points, second paper abstract 25 points, paper 125 points = 300 points; total for papers 300 points)
Note on Papers: 60% of the grade is based on your writing of two papers. Given the number of students in the course we will proceed as follows: For each paper we ask you to submit to me a title and an abstract of approximately 250 words. I would like a hard copy of this material and I will collect this material in class on Monday, January 17th. The abstract must include the primary source(s) of the material you are reporting on (see below). I will read these abstracts, grade them and make suggestions as to points which should be emphasized. (Directions for preparing an ABSTRACT are available at our Chalk site) Your complete paper needs to be submitted as a “hard copy” will be read and graded by one of the TA’s who will return it to you with comments. If you wish a different grade you may revise the paper in light of the TA’s comments and submit a revised hard copy to me (along with the original marked-up paper containing the TA’s comments). I will read the revised paper and give it a grade. I do reserve the right to lower the grade if the paper is not obviously better or if I think the TA has been overly generous.
You may submit proposed topics to me for approval before undertaking to write an abstract.
Paper deadlines:
First paper: Topic plus Abstract due by Monday, January 17 at 11:30AM. I will read your abstract and return it to you with suggestions on Wednesday, January 19th. The complete paper is due in class on Monday, January 31st.
Second paper: Topic plus Abstract due by Monday, February 21st. I will have the abstract returned with comments on Wednesday, February 23rd. The second paper is due in class on Wednesday, March 9th. Corrected papers will be available from me on Monday, March 14th after 3PM
Either or both papers can be revised and resubmitted before the end of exam week, Friday, March 18th.
Paper Topics
Paper 1: You come home for a break and are greeted with a request. Your parents (friends, relatives—you choose) have read an article in a newspaper, or seen a posting on the web) which is directly relevant to human genetics or to material presented in this course but which is not clear or complete either as to its content or the reliability of its information. Since you have studied this subject at The University of Chicago you are presumed to be an expert on the subject. Using the published article as a guide, give a more technical (but still understandable) description of the material discussed, find the primary source of (at least some of) the material. [The primary source is almost always a Journal article. If you give a web site as a reference be sure that it will lead the TA directly to the source. We will let you know if we have difficulties. Some articles may have multiple sources. In that case find at least one.] Try to evaluate how well the reporter has followed the intentions of the authors. Are there practical conclusions from the article(s)? For example, a recent paper in Science implied that eating farmed salmon was deleterious whereas a later issue had several detailed letters contesting the conclusion. What should a non-scientist do (and why?) An interesting idea is to take two articles from different newspapers describing g the same event or article and to compare them to each other and to the original. Your paper should be at least five (double spaced) pages in length (we do not wish to count but be prepared to defend your decision to make it significantly shorter or longer).
A list of news articles that might be used is posted on the Chalk site for this course but this is just a selection of articles I have seen and there are many others available.
Paper 2. Find a Journal article (or articles) describing original research (not a review of a series of results) directly relevant to human genetics* and which is (relatively) understandable. The topic should be different from your first paper. Write a newspaper or magazine article based on this paper. Give a summary of the material presented along with enough background material to let the reader (assumed to be a non-scientist) understand what is being discussed. Be sure to give adequate citations to this background material. I prefer citations to printed material but it is clear that Web citations are becoming acceptable. (Please be sure that a web site you give can be readily accessed—we will be in touch if there are problems.) Present a critique of the material or (more likely) an evaluation of its significance. If there are critical reviews available you may certainly use their arguments, giving appropriate credit. This paper should be at least five (double spaced) pages in length plus citations. (In the past I have asked for ten pages but the result has been much repetition towards the end. Five crisp, readable pages are much better than ten pages including six of padding!)
- Directly relevant = discussed in one of the lectures or in the text.
An example of an :”abstract:
Wertz DC, Fletcher JC, Mulvihill JJ.. 1990. Medical geneticists confront ethical dilemmas: cross-cultural comparisons among 18 nations. Am J Hum Genet. 46:1200-13
To provide a basis for international discussion of ethical problems, we studied responses of medical geneticists in 18 countries to questionnaires about 14 clinical cases and five screening situations. Of 1,053 asked to participate, 677 (64%) responded. There was greater than or equal to 75% consensus on five cases involving (1) disclosure of (1) conflicting diagnostic findings, (2) disclosure of ambiguous results, (3) disclosure of controversial interpretations, (4) protection of mother's confidentiality in cases of false paternity, and (5) nondirective counseling about 45,X and XYY syndrome. A majority (51%-60%) would disclose the diagnosis to relatives at risk for Huntington disease or hemophilia A, against the patient's wishes; would disclose which parent carries a translocation causing Down syndrome; and would disclose XY genotype in a female. As reproductive options for patients with disorders not diagnosable prenatally, 84% would discuss artificial insemination by a donor, 66% would discuss in vitro fertilization with donor egg, and 46% would discuss surrogate motherhood. In all, 85% would perform prenatal diagnosis for (or would refer) parents who refuse abortion, 75% for maternal anxiety, and 42% for selection of fetal sex. Screening questions showed that 72% believed that workplace screening should be voluntary and that results should be confidential.