BL414 Principles of Genetics
Syllabus
Spring 2006
Instructor
E-mail
Mailbox
Voicemail
Lecture
Lab
Required textbook
Recommended resource
Kathy S. Gleason, Ph.D. kgleason@regis.edu
in the Biology office
303-964-5731
Monday and Wednesday 2:30pm - 3:45 pm
Wednesday 4:00pm - 6:40pm

Genetics: Analysis of Genes and Genomes, Daniel L. Hartl,
Elizabeth W. Jones - 6 th edition. Jones and Bartlett Publishers,
Sudbury, MA ISBN 0-7637-1511-5

Writing Papers in the Biological Sciences, Victoria E. McMillan - 3 rd edition. Bedford/St.Martin’s, Boston ISBN 0-312-25857-7
Genetics is the study of heredity – how the information governing an organism and giving it an identity and program for living is transmitted to each successive generation. Uncovering the basis of heredity led to the understanding of how genetic information is encoded in genes, and how genes encode and direct the full operating program of an organism. Today the field of genetics includes classic transmission genetics, molecular genetics and evolutionary genetics.
These areas of research now reach into and intertwine with many other fields of biology, including cell biology, developmental biology and biochemistry. This course provides an in-depth treatment of genetics from the molecular to the genomic level, building on topics covered in BL260 Molecular and Cellular
Biology. Students are expected to be familiar with the basics of Mendelian and molecular genetics from BL260.
The objectives of the course are the following: 1) To understand the basic processes of heredity, from Mendelian to chromosomal, plus inheritance of organelles, with appreciation of important experimental organisms and with special emphasis on human genetics. 2) To understand the molecular basis of information flow from DNA, and the critical regulation of that information: how alterations in genes or regulation cause disease, how our ability to sequence genomes permits detection/diagnosis of human genetic disease, and how model organisms constructed with mutations in particular genes help decipher molecular basis of disease. 3) To appreciate the historical context of genetics and the major contributors to the field, and to investigate the social and ethical implications of these technical advances, including question of genetic privacy, gene therapy, stem cell research, and genetically modified organisms.

Week:
1
Date:
January 18
Quizzes, problem sets
(PS), review paper
Topic:
Chapters or sections in Hartl:
2 January 23
January 25
Turn in topic for review paper
Introduction and review
Transmission genetics
Ch. 1,
2.1-2.4
3.1-3.3
Transmission genetics 2.4-2.7,
3.4-3.7
4.1-4.4 3
4
January 30
February 1
February 6
Quiz1,
PS1
Chromosomes
Statistics problems 4.5-4.6
Meet in Dayton Memorial Library, Room 310
Review; Library Session
Test 1 February 8
5 February 13
Title, list of 15 refererences and outline of background section for paper due
February 15 Quiz2
Linkage mapping and test crosses
Human pedigree
6
7
February 20
February 22
February 27
March 1
PS2
Quiz3
Tetrad analysis,
Recombination
DNA Replication and
Recombination
Chromosome organization, Human karyotypes
Repetitive sequences, centromere and telomere structure
Spring Break March 4-12
5.1-5.3
5.4
5.5-5.6, 6.9
Ch. 6
7.1-7.5
8.1
7.6-7.9

Week:
9 March 13
March 15
10 March 20
March 22
11 March 27
March 29
12 April 3
April 5
13 April 10
April 12
14
15
Date:
April 17
April 19
April 24
April 26
Quizzes, problem sets
(PS), review paper
Draft of background section and outline of current research section due
Topic:
Chromosomal abnormalities
Chapters or sections in Hartl:
8.3-8.8
Review
Test 2
Gene regulation
Genetic engineering and genomics, molecular evolution, bioinformatics
Mutations and repair
Emphasis on 11.5-
11.8
Emphasis on 12.4-
12.5,
17.1
14.1-14.4
Mutations and repair 14.5-14.7
PS3
Final Draft of Review
Paper Due
Quiz4 Cell cycle and cancer 15.1-15.2
PS4 Cell cycle and cancer
Population genetics
Review for test
Test 3
15.5-15.7
17.1-17.2
Quiz5
Poster session on human genetic diseases
Ch. 16 Mitochondrial inheritance
Complex inheritance Ch. 18 PS5
May 3 1:15 p.m. Lab Final
May 5 8 a.m. Lecture Final

Grading
PROBLEM SETS: There will be 5 problem sets worth 20 points each, so in total they will be worth 10% of your final grade. They will be handed out 1-2 weeks before their due date.
QUIZZES: 5 quizzes will be given over the course of the semester, on the days listed in the syllabus. They will be short and taken at the beginning of class. They may cover the material in the previous 1-2 lectures or the reading material assigned for that day from the textbook. Each quiz will be worth 20 points, so in total they will comprise 10% of your final grade.
LITERATURE REVIEW PAPER ON HUMAN GENETIC DISEASE: You will write a literature review paper on a human genetic disease, which will be worth 20% of your grade or 200pts. Your topic, or title, is due on Jan. 23 (5 points). Bibliography and outline of background section is due
Feb. 13 (35 points). Background draft and outline of research section is due March 13 (35 points).
The final draft will be worth 125 pts., due on April 3. Be sure to thoroughly and carefully read the description of the review paper at the end of the syllabus.
TESTS: Three one-hour tests will be given throughout the semester as listed below. Each test will be worth 150 points. Test grades will be normalized to a mean of 78%(B-/C+) if necessary.
FINAL EXAM: The two-hour comprehensive final exam will be worth 150 points, or 15% of your final grade. Final exam grades will be normalized to a mean of 78% (B-/C+) if necessary.
GRADING SUMMARY:
Problem sets (5)
Quizzes (5)
Literature review paper
One-hour Tests (3)
Comprehensive Final Exam
Point value
(5 x 20pts) 100 pts
(5 x 20pts) 100 pts
200 pts
(3 x 150 pts) 450 pts
150 pts
Percentage of final grade
10%
10%
20%
45%
15%
The grading scale is as follows:
C-
D+
D
D-
F
A
A-
B+
B
B-
C+
C
94-100
90-93
86-89
82-85
78-81
74-77
70-73
66-69
62-65
58-61
54-57
53 and below

Course policies
DISABILITIES: Students with documented learning disabilities or any condition that will interfere with your ability to complete this course should let me know during the first week of the semester. A request for accommodations should be made to the University’s Disability
Services Office, along with appropriate documentation. Contact the office by email at disability@regis.edu or by telephone at 303-458-4941. Joie Williams is the Director of the
Disability Services office and will contact the student and me about the appropriate accommodations for the course.
EXCUSED ABSENCES: Missing a test or exam will only be excused for dire emergencies such as severe illness or bereavement. I will require a note from the office of student affairs or your doctor in order to determine that your absence is excused. If you have an excused absence, I will average out that grade. Rarely, for a very compelling reason (e.g. you are attending a funeral or having major surgery on the day of the test), I will allow a student to arrange to take the test ahead of time. The final exam will not be rescheduled so plan accordingly.
NCAA athletes: Students who are members of a team in an NCAA sport should let me know immediately in the first week of the semester if their sports schedule will cause them to miss any tests or exams, and we will try to reschedule these ahead of time. Even NCAA team members are responsible for turning in all problem sets and assignments by the due dates given in the syllabus. If you will be away have a friend turn in your assignments on time.
UNEXCUSED ABSENCES: An unexcused absence on a test or exam day will result in a zero for that test or exam.
MISSING LECTURES: You are not penalized for missing lectures on a non-test day. It is recommended that you attend lectures because they will cover the material that will help you be successful in the course. Some material covered in class will not be found in the textbook. We will also work on problem solving during the lecture time which will help you learn how to do problems that will appear in assignments, tests and the final exam. If you must miss a lecture have a friend turn in your assignments on time.
Deportment: If you are disruptive to a class the professor may ask you to leave.
ACADEMIC HONESTY: Cheating or plagiarism on any test, exam or assignment will not be tolerated and will result in an F for the course. Do not copy problem sets: You are encouraged to work together on problem sets, but copying someone else’s problem set is considered cheating and will result in an F for the course. Put answers in your own words and show all work in your calculations.
Tips for successful learning in this course

Read the assigned material in the textbook before every lecture.

Spend at least 6 hours a week outside of class reading the textbook, studying your notes, and working on problems.

Attend all lectures and participate by listening, taking notes and asking questions.

Get to lectures on time and come prepared – having done the readings and problem sets, and with adequate nourishment and rest!

Work ahead of time on your review paper; keep up with all of the deadlines.

Contact the professor by email or during office hours if you are having difficulty with some aspect of the course.

LITERATURE REVIEW PAPER ON HUMAN GENETIC DISEASE:
Format: The review paper should be 8-10 pages not including references, double-spaced, 12pt font, 1 inch margins. References should be cited using Name-Year format.
The review should include the following content:
1.
Disease Background (~5 pages): a.
The molecular basis of the disease: what type of disease is it? what gene, enzyme, cellular defect and what inheritance pattern? (e.g. chromosomal deletion, recessive or dominant, sex-linked or autosomal, recessive or dominant, sporadic) b.
Brief history of the disease, with its discovery or discoverers; current estimates of the incidence of the disease in the U.S. or world wide; the types of diagnostic tests available (enzymes, PCR, etc.) c.
Disease pathology d.
Current treatment and screening - the possibility of cure or increasing life expectancy - any social ethical concerns about such treatment, diagnosis, screening
2.
Review of current research (~5 pages) Summarize the most current papers reporting research on this disease (published in peer-reviewed journals in the last few years).
Depending on your own interests and the current research, you may focus on basic research to understand the disease, or clinical research focusing on treatment and/or screening. Put the results you choose to write about in a coherent order, and compare and contrast the findings. You need to choose a particular theme for your paper, and draw together a coherent set of findings which you will summarize, compare and synthesize. Do not simply report on a smattering of unrelated research articles. For further instructions on writing a review paper, refer to Writing in the
Biological Science Chapter 5 “Writing a Review Paper” pp. 88-106.
3.
You may conclude your paper with a discussion of the possibility of cure or increasing life expectancy for patients with the disease. You may also discuss any social or ethical concerns about treatment, diagnosis, and screening.
4.
References (at least 15 articles from peer-reviewed journals) You should have at least
15 references from academic peer-reviewed sources, preferably more. Use the Name-
Year (Harvard) system to cite your references (see Writing in the Biological Sciences
Chapter 6, “Documenting the Paper” pp 107-125).
Online guide to writing a literature review: http://www.unc.edu/depts/wcweb/handouts/literature_review.html

Human genetic diseases for Review Paper:
You can choose other human genetic diseases that are not in the list below. A good source is the
Online Mendelian Inheritance in Man searchable catalog: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM autosomal recessive diseases:
Tay-Sachs disease phenylketonuria – don’t do this, it is described in detail in your textbook xeroderma pigmentosum retinoblastoma
B-thalassemia
Cystic fibrosis
Friedreich ataxia
Niemann-Pick Disease, Type A, B, or C diabetes autosomal dominant: hypercholesterolemia (the FH, receptor form)
Marfan syndrome achondroplasia
Machado-Joseph disease
X-linked recessive:
Duchenne muscular dystrophy
X-SCID (severe combined immune deficiency)
Lesch-Nyhan dominant X-linked: hypophosphetemia (vitD-resistant rickets) chromosomal:
Down syndrome (trisomy 21) cri-du-chat syndrome promyelocytic leukemia
XYY syndrome imprinting:
Prader-Willi syndrome mitochondrial:
Lever’s heredity optic neuropathy