Biology 4071/6071 - Human Genetics
Instructor: Dr. Melvin Beck Spring 2004
Office: Life Sciences 317 Office Hours Wed. 10:30-11:30;
Phone: 678-2970 Tu & Th 1:00-200; By appointment
Human genetics is an upper division/graduate course that presents the principles of
classical and molecular genetics with a focus on the application of those principles to
humans. This course is not intended to be an introduction to the field of genetics but
instead is a specialize course in which human will be the primary organism of genetic
interest. Students should have already completed an introductory genetics course with an
additional course in cell biology recommended. Topics that will be covered include cell
cycle regulation, segregation, linkage, genetic and physical mapping, multifactorial
inheritance, cytogenetics and chromosomal abnormalities, cancer genetics, mitochondrial
inheritance, human molecular genetics, mutation, and genetic screening and counseling.
Biology 3072 (Genetics) or an equivalent introductory genetics course. A course in cell
biology is also strongly recommended.
Text, Supplies, and Web Page:
Text: Gustavo Maroni. 2001. Molecular and Genetic Analysis of Human Traits.
Blackwell Science, Malden, MA.
Calculator: You should have a scientific calculator, one that can perform log and square
and cube root functions.
Web Sites: Readings from selected research/review articles will be used to supplement
the textbook for certain lecture topics. These articles will be available on the course web
Examination and Grading Policy:
Your course grade will be determined by your performance on: 1) three examinations
given as indicated on the lecture schedule, 2) problem sets, 3) a review paper and oral
presentation, and 4) a final examination.
Lecture Examination: There will be three lecture examinations during the semester and
they will constitute 50% of your course grade. Each examination will be worth 100
points and will consist of problems, thought questions, and multiple choice questions.
Each lecture examination will consist of a take home portion and an in class portion. The
test will draw on lecture material, required readings, and class discussion. Answers to
questions are to be grammatically correct and to employ appropriate genetic symbols.
Problem Sets: Genetics is a problem solving discipline of biology and problem solving
will constitute a significant portion of this course. There will be regular problem set
assignments. These problem sets will relate to the current lecture and reading
assignments, and the number of problems will vary. These problem sets are difficult and
will take some time; hence, they should not be put off till the last minute. You should take
these problem sets seriously because you will see similar problems on the exams. You are
required to solve, showing all your work, and turn in written solutions to these problems
on the designated due date. Late or missing papers will receive a zero.
You are encouraged to form study groups to discuss lecture material and problem sets. If
you study and discuss problem sets in a study group put the names of all members of your
study group on the front page of your answers. You will NOT be penalized for this;
however, DO NOT COPY ANSWERS FROM EACH OTHER. Discuss the problems
in your study group and then go home and WRITE UP YOUR ANSWERS ALONE.
The problem sets are to be the product of each student's own work.
Your semester problem set score will be calculated by summing your scores for each
problem set and dividing by the total possible problem set points for the semester. Your
performance on the problem sets constitutes 10% of your course grade.
Review Paper and Oral Presentation: Each student will prepare a review paper and
make an oral presentation as part of the course requirements in Biology 4071/6071,
Human Genetics. Early in the semester you will select a human genetic disorder that will
form the topic for your review paper. The review paper will be prepared according to
guidelines that I will provide as a separate document. The review paper will be worth 100
points and will constitute 15% of your course grade.
Each student will make an oral presentation of his or her review paper to the class. The
duration of the presentation will be 10 to 12-minutes, and a question/discussion period will
occur after the presentation. The student will prepare sufficient copies of his/her paper and
give them to the instructor for distribution to other class members no less than one week
prior to the presentation. You can use whatever medium you feel is appropriate for
making your presentation. Some possibilities include overhead transparencies, slides, and
PowerPoint presentations. If you choose the latter, be sure to check with the instructor
about compatibility of computers and projection equipment. The oral presentation is worth
50 points and will constitute 5% of your course grade.
Final Examination: The final examination will be comprehensive and is mandatory.
The final examination is worth 150 points, 100 points over material since the last exam
and 50 points over material from the entire semester. The final examination will consist
of problems, thought questions, and multiple choice questions and will constitute 20% of
the course grade.
Graduate students enrolled in Biology 6071 will be required to answer additional and
more challenging questions on each lecture exam and on the final exam.
Category Percentage of Course Grade
Lecture Examinations 50
Problem Sets 10
Review Paper 15
Oral Presentation 5
Final Examination 20
The course will not be graded on a curve. Final course grades will be assigned according
to the following grade scale:
90 - 100% = A
80 - 89% = B
79 - 79% = C
60 - 69% = D
<60% = F
Academic misconduct will result in failure of the course. Consult the Student
All cell phones, pagers, beepers will be turned off upon entering the classroom. Class
starts promptly and I expect you to arrive to class on time.
LECTURE AND EXAMINATION SCHEDULE
DATE LECTURE TOPIC ASSIGNMENT
January 12 Introduction None
January 14 Cell Cycle Chapter 8, pp. 208-213;
January 16 Cell Cycle Cell Cycle and its Regulation
January 19 Martin Luther King Holiday
January 21 Cell Cycle Exit from Mitosis (Nature Cell
January 23 Cell Cycle Anaphase Promoting Complex
(Genes & Develop. 16:2179-2206)
January 26 Mutation Chapter 7
January 28 Mutation Chapter 7
January 30 Genetics of Cancer Chapter 8; Cancer cell cycle
revisited (Cancer Res. 60:3689-
February 2 Genetics of Cancer Chapter 8
February 2 Select Genetic Disorder for Review Paper
February 4 Exam #1
February 6 Patterns of Inheritance Chapter 1
February 9 Patterns of Inheritance Chapter 1
February 11 Complex Patterns of Inheritance Chapter 2
February 13 Complex Patterns of Inheritance Chapter 2
February 16 Cytogenetics - Chromosomes and normal Chapter 5
February 18 Chromosomal Aberrations Chapter 5
February 18 Proposal for Review Paper Due
February 20 Autosomal Numerical Aberrations Chapter 5
February 23 Sex Chromosome Numerical Aberrations Chapter 5
February 25 Exam #2
February 27 Chromosome Structural Aberrations I Chapter 5
March 1-7 Spring Break
March 8 Chromosome Structural Aberrations II Chapter 5
March 10 DNA - Structure and Replication Telomere architecture (EMBO
Reports 3:1139-1145; Telomere
maintenance and disease (Lancet);
Telomerase & Cancer (Hum. Mol.
March 12 Gene Expression - Transcription Lecture Notes
March 15 Gene Expression - Translation Lecture Notes
March 17 Metabolic Disorders Chapter 6
March 19 Recombinant DNA Technology Lecture Notes
March 22 Recombinant DNA Technology Lecture Notes
March 24 Exam #3
March 26 Genetic and Physical Mapping of Human Chapter 4
March 29 Genetic and Physical Mapping of Human Chapter 4
March 31 Genetic and Physical Mapping of Human Chapter 4
April 2 Non-Mendelian Inheritance - Mitochrondrial Mitochondrial papers
by Sharon Hesterlee
April 5 Non-Mendelian Inheritance - Imprinting http://www.medgen.ubc.ca/
April 7 Non-Mendelian Inheritance - Uniparental http://www.medgen.ubc.ca/
April 9 Review Paper Due
April 9 Genetic Screening and Counseling Chapter 9
April 12 Oral Presentations
April 14 Oral Presentations
April 16 Oral Presentations
April 19 Oral Presentations
April 21 Oral Presentations
April 22 Study Day
April 23 Comprehensive Final Examination All Previous Material
HUMAN GENETICS WEB PAGE
In any web browser (Netscape or Microsoft Explorer) go to the following URL:
http://myclass.memphis.edu. On the left side of the window is a panel marked “Log In” with
places for you to type in your username and password. The username is your standard
University of Memphis username, and the password is your Postoffice password for email (the
Postoffice password is also known as the PH password).
After you log in, the left side of the window will display a list of courses in which you are
currently enrolled. Click on BIOL 4071:001 or BIOL 6071:001 and the course web page will
be displayed with a set of tabs across the top. The tab labeled Bulletin Board is used to post
general information, notices, grades, PowerPoint slides and Word documents. Anything posted
on the bulletin board will be available for you to view and download.
I will notify you by email regarding any changes to the syllabus and when new material is
placed on the course web page. You are responsible for checking your email on a regular basis
in order to keep abreast of changes related to the course. Each student at the University of
Memphis has an official University email address (firstname.lastname@example.org). Very often
students use AOL, Hotmail, Yahoo, etc. instead of their University email address. If you use
an email address other than your official University email address, you need to make sure that
the email sent to memphis.edu is automatically forwarded to your preferred email account. In
order to have your email forwarded go to iam.memphis.edu and arrange to have your email
forwarded to your preferred email account.