Instructor Dr. Nancy J. Bachman
Office 35 Denison Hall
Office Hours MWF 11 am-12 noon
Web Page http://employees.oneonta.edu/bachman/human%20genetics/biology_311web.htm
Lectures MWF 9-9:50 am HECO 127
week date lecture topic text Other assignments
1 8/23 DNA/RNA/proteins (review) Chap. 1 Study questions
8/25 Chromosomes Chap. 2 Methods topic
2 8/28 Chromosome defects " " Article #1
8/30 Pedigree analysis Chap. 4
9/1 Complex traits " " Problem set
3 9/4 Hardy-Weinberg equilibrium " "
9/6 Recombinant DNA Chap. 5 Methods presentations
9/8 Recombinant DNA " "
4 9/11 Recombinant DNA Chap. 6
9/13 Recombinant DNA " "
9/15 Recombinant DNA Chap. 7
5 9/18 Recombinant DNA " "
9/20 Recombinant DNA " "
9/22 Human genome project Chap. 8 to
6 9/25 Bioinformatics “ “
9/27 Model organisms Chap. 8 pp. First take home exam
9/29 mtDNA Chap. 9 to
7 10/2 Fall Break I--no class
10/4 Nuclear gene organization Skim Article #2
Chap. 9 pp.
10/6 Regulation of gene expression Chap. 10
8 10/9 Regulation of gene expression Chap. 10
10/11 Mutation and repair Chap. 11
10/13 Mutation and repair Chap. 11
9 10/16 Comparing genes and Chap. 12 Problem Set #2
10/18 Gene mapping Chap. 13
10/20 Positional cloning Chap. 14
10 10/23 Complex diseases Chap. 15
10/25 Molecular pathology Chap. 16
10/27 Molecular pathology “ “
11 10/30 Cancer genetics: oncogenes Chap. 17 Second take-home
11/1 Cancer genetics: suppressors “ “
11/3 DNA testing Chap. 18
12 11/6 DNA profiling “ “ Review paper topic
11/8 Functional genomics Chap. 19
11/10 Proteomics “ “
13 11/13 Stem cells/cloning Chap. 20
11/15 Knock-outs/transgenics “ “
11/17 RNAi " "
14 11/20 Fall Break III--no class
11/22 Fall Break III--no class
11/24 Fall Break III--no class
15 11/27 Gene therapy Chap. 21
11/29 Presentations Review papers due
16 12/4 Presentations
17 12/13 Final exam Final take-home
8 am-10:30 am Exam due
Course Description: Biological basis for human heredity. Course will examine the
transmission of traits in human lineages (pedigree analysis), the molecular basis for
genetic disease (molecular genetics), chromosomal defects (cytogenetics), and genetic
variation in populations (population genetics). Current topics such as the human genome
project, cloning and stem cell research, DNA forensics, and gene therapy will be
1. Review key concepts in molecular, Mendelian, and population genetics relevant
to the study of human heredity.
2. Develop skills in critical thinking and problem solving based on aspects of
3. Highlight how the human genome project and new tools in molecular biology are
impacting human genetic and reproductive technologies.
Strachan, Tom and Read, Andrew P. (2004) Human Molecular Genetics 3, third edition.
Garland Science, New York, NY.
Required Readings: Research articles will be available on blackboard or in some cases
can be downloaded directly from the web.
Lecture and Exam Schedule: The class meets MWF 9-9:50 am in room 319 Science I.
There will be three take-home exams. These will be handed out about a week before they
are due. The third take-home will be due at the time scheduled for the final exam.
Problem Sets: A major objective of this course is to encourage you to think critically
about genetics. Problem sets will occasionally be assigned and worked in class. Several
questions on the take-home exams will be problems.
Methods Presentations: Early in the semester we will focus on a number of
recombinant DNA methods. You will choose a particular method and investigate it
further, including how it might be applied in human genetics. You will provide a class
handout (paper or electronic) and brief presentation in class (10-15 min.) on the method.
Images can be used from the text to illustrate your presentation and are available on
Research Articles: During the semester, we will be reading and discussing as a group
two research articles. You will hand in a review of major points from the paper using the
format in an upcoming class handout. For extra credit (up to 20 points), you can choose
to review an additional research article you obtain from the instructor.
Review paper and presentation: Details of this assignment will be given in an
upcoming class handout. Identify early in the semester a topic in human genetics to
research. The review paper will involve selecting a focus paper, which must be a
published review or research article and additional related references including articles,
books and internet sources. You will summarize major points of the article and provide
additional background relevant to the topic. You will also give about a ten minute power
point presentation to the class on your topic. The paper will be due Nov. 29, 2006 and
presentations will be given during the last five class periods.
Take-home exams (3 @ 80 pts. each) 240 pts.
Problems and study questions 60 pts.
Methods presentation 20 pts.
Article reviews (2) 40 pts. (+ extra credit option)
Review paper and presentation 80 pts.
Course total 440 pts.
Grades will be assigned based on the following % of the course point totals:
A 93-100% C 73-76%
A- 90-92% C- 70-72%
B+ 87-89% D+ 67-69%
B 83-86% D 63-66%
B- 80-82% D- 60-62%
C+ 77-79% E <60%