DePauw University

Instructor: Fornari

BIO 105

Human Genetics

Lecture-MTWTh, 11am Olin 135
Lab-T, 2-4pm Olin 223

Instructor: Chet Fornari
my office: Olin 232
my phone: 658-4781
e-mail: cfornari

Text: Human Heredity: Principles and Issues, by Michael R. Cummings. West/Wadsworth Publishing Co.   Cummings: Human Heredity Principles and Issues, 4/E

  Outline of Course Contents:

I. The Scientific Method

Handouts: Notes on the Scientfic Method  Just What is Science? (source: a Beginner's Guide to Scientific Method. 1998. S.S.Carey)

II.  Molecular Genetics


Reading assignment

Questions & Problems


DNA structure: p.202-208
Chromosome struct.: p.208-210
DNA replication: p.211-212



Biochemical Pathways: p.217-219
Gene structure, Transcription: p.220-222
(Protein synthesis: 222-228)
The Genetic Code: 228-229



Mutation at the molecular level: p.274-277
Trinucleotide repeat diseases: p.277-279
Genotype to phenotype: p.280-282


III. Transmission Genetics


Reading Assignment

Questions & Problems


(Cell Structure: p.14-21)
Chromosome Structure: p.22-23
Cell cycle & Mitosis: p.23-33
Meiosis: p.33-43


10, 12-14 
17, 20, 26


Principle of Segregation: 50-57
Priciple of Independent Assortment: 57-59; bott. of 61-62
Chromosomal Theory of Inheritance: 62-63
Multiple alleles: 64
Dominance relations: 65-66
Introduction to Pedigree charts: 66-71

1-5, 7, 8, 10, 18, 20, 26


Autosomal dominant & recessive inheritance: 75-88
X-linked dominant & recessive inheritance: 88-95
Environmental effects on Gene Expression: 96-100
(Linkage-how genetic maps are constructed: 100-103)

1-12, 16-19

IV. Mutated Genes & Chromosomes


Reading Assignment

Questions & Problems


Chromosomes and Karyotypes: 137-139
Variations in Chromosome number and structure:142-148
Sex chromosome aneuploidy: 149-152
Structural defects in chrom.: 153-155



The Biochemical pathway: p.238-240
Inborn errors of metabolism: p.241-256:
, alkaptonuria
fructosuria, pentosuria
Lesch-Nyhan syndrome
familial hypercholesteremia
testicular feminization

sickle-cell anemia; thalassemias
Summary of important concepts: p.261


V. Genetic Engineering & Recombinant DNA technology


Reading Assignment

Questions & Problems


Clones & Cloning: p.288-296
"Libraries" of clones: p.297-298
Other recombinant DNA techniques:
DNA sequencing: p.300-302
Polymerase Chain Reaction: p.302-305
"Cloning for Medicine," by Ian Wilmut in Scientific American Dec. 1998, p.58-63



RFLP's, VNTR's and DNA fingerprinting: p.309-315
Prenatal, Preimplantation & Presymptomatic testing:p.315-318
Human Genome Project: p.318-32
Correcting genetic disorders: p.322-32
Ethical concerns: p.325-326


VI. Behavioral Genetics


Reading Assignment

Questions & Problems


Polygenic traits and inheritance:109-116
Multifactorial Traits:116-117
Heritability: 117-126
Some examples of Multifactorial Traits: 126-133




VII. Critical Readings in Genetics



Paul, Diane B The Politics of Heredity. 1998
Rifkin, Jeremy The Biotech Century: Harnessing the gene and remaking the world. 1998
Steinberg, Deborah L Bodies in Glass: Genetics, Eugenics, Embryo Ethics. 1998
Sunstein, C.R., and Nussbaum, M.C., eds. Clones and Clones: Facts and Fantasies about Human Cloning. 1998
Appleyard, Bryan. Brave New Worlds: Staying Human in the Genetic Future. 1998
Kass, L.R. & Wilson, J.Q. The Ethics of Human Cloning. 1998
Plomin, R. Nature and Nurture: An Introduction to Human Behavioral Genetics. 1990
Plomin, R. (editor) Behavioral Genetics. 1997
Steen, R. Grant DNA and Destiny Nature and Nurture in Human Behavior. 1999
Wright, William Born That Way Genes, Behavior, Personality. 1998
Carson, Ronald A. Behavioral Genetics: The Clash of Culture and Biology. 1999
Krause, Carol How Healthy Is Your Family Tree: A Complete Guide to Tracing Your Family's Medical and Behavioral Tree. 1998

Description of Course Contents

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

Another important goal of the course is to not only achieve an understanding of the Scientific Method, but also to apply it throughout the semester. An effective way to understand and appreciate the meaning of the Scientific Method, as well as its limitations, is to use it. An important component of the course is to not only "think scientifically" in its narrowest sense (e.g., a scientist working in the lab on a very specific problem), but also to think critically and analytically about all assertions and claims made by any author/speaker (e.g., a policy decision about genetic testing made by a government agency). Of special concern in this course will be claims and assertions about interpretations of genetic data and information, especially as it applies to human society and future policies of social engineering. Thinking, speaking, and writing in a critical, analytical, scientifically informed manner is one of the highest priorities of the course.

You will accomplish these goals by:

Genetic Diseases in Humans

As part of class activities and discussions, we will keep a record of each disease discussed in the text (from your reading assignments). I will list these diseases on the Genetic Diseases in Humans page, along with other relevant information or web-sites. One outstanding web-site for genetic diseases in humans is OMIM. Of course other informative sites exist, but all such sites seem to lead back to OMIM in one way or another. Any of the diseases on the growing list are possible sources for questions on the exams.

Grade categories, distributions, and Exam dates:
(80%): 3 Exams (based on the assigned readings, lecture/discussion material/problem sets)
Exam #1: March 2nd; Exam #2: April 6th; Exam #3: May 4th; Final Exam: May 17th, 9:00am
(20%): reports and class presentations; Internet HTML Project or Research Position Paper (and all writing assignments)

Links to Web Sites

Cummings: Human Heredity Principles and Issues, 4/E
The Biology Project
Yahoo! Science:Biology:Genetics:Cloning
Yahoo! Science:Biology:Genetics:Cloning:Human Cloning
Yahoo! Science:Biology:Genetics:Human Genetics
Public Health Genetics Society Home Page
National Academy Press Virtual Bookstore (Teaching about Evolution)
DreamTech International
OMIM-Genetic Diseases in Humans
Designer Genes
Eugenics: From Science to Social Quackery
Yahoo! Health:Diseases and Conditions:Genetic Disorders
Yahoo! Genetic Testing Service 
Medical Genetics
Gene Letter Table of Contents, August 1998
DNALC Home Page
The DNA Files
Scientific American Explorations: A Clone in Sheep's Clothing 3-97
Homo sapiens (site for human genetic diseases)

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