Course Title and Number:
IST 341 Issues in Human Genetics
Dr. Elizabeth Murray
241 G BBSC
Office Hours: M 3-5
Make an appointment to see me at other times.
Course Description, Credits, and Prerequisites
This course will provide students with a basic foundation in human genetics.
Fundamental principles of classical, molecular and population genetics will be presented
with a focus on their application to human inheritance and the genetic basis of human
diseases. The social and ethical issues raised by progress in medical genetics will be
evaluated and discussed. This course allows students to develop proficiency in the
methods used in human genetics laboratories. Labs are designed to promote student
independence, accountability and teamwork.
Credit Hours- 4
Prerequisites- IST 111, 241 OR BSC 120
Human Genetics, Concepts and Applications 7th or 8th Edition by Ricki Lewis. McGraw
Case Workbook to accompany Human Genetics by Ricki Lewis McGraw Hill
Additional Study Aids:
Text Web Page Link: http://highered.mcgraw-hill.com/classware/selfstudy.do?
The text web page has great study questions for reviewing for quizzes.
Instructor provided laboratory protocols, worksheets and laboratory notes.
On-line Internet resources, including biotechnology company websites and technical
Other websites worth visiting are:
Access to a Pentium computer with Microsoft Office 2007, GenePro, Internet Explorer
and WebCT Vista.
Desired Learner Outcomes/Objectives:
1. To provide an understanding of the basic principles of genetics, including mitosis and
meiosis and the processes of replication, transcription and translation.
2. To provide an understanding of the genetic basis of human disease and current
approaches to treatment and prevention of genetic disorders.
3. To relate the study of human genetics to major advances in genomics, bioinformatics,
molecular genetics and biotechnology.
4. To provide an awareness of the interaction between genetic and environmental factors
underlying birth defects and the development of human disease.
5. To relate human genetics to current issues in genetic screening, genetic counseling and
6. To provide an awareness of the relationship of the individual genome to the genetic
makeup of the human population and its ramifications to human diversity.
7. To provide a learning opportunity for students enrolled in Biological and Health Sciences
applicable to career areas including biomedical technology, pre-medical, secondary
education, special education, and nursing.
After completion of the laboratory portion of this class, students will have demonstrated the
1. Ability to collect family history and construct a pedigree
2. Ability to interpret pedigree data
3. PCR and SNP genotyping using agarose gels
4. PCR and DNA sequencing of human mitochondrial DNA and interpretation of geographic
5. Computer analysis of DNA sequences
6. Understanding of the HapMap, Seattle SNP database and trait mapping
7. Protein Gel for hemoglobinopathies
Evaluation/Measurement of Learner Outcomes:
The standards for measuring successful completion of learner objectives will be
Lab Work (Lab participation and reports, Lab questions,) 35%
Lecture quizzes 30%
Final Exam 20%
Family Tree 10%
Problem sets 10%
Class participation 5%
A = 90-100 %
B = 80-89 %
C = 70-79 %
D = 60-69 %
E < 60 %
Lab work will be assessed based on attendance, participation, completion of lab
summary questions and formal laboratory reports. The lab reports will follow the
guidelines suggested by LabWrite project at NC State (http://www.ncsu.edu/labwrite/).
There will be four labs for which reports can be written. Students will turn in a draft and
have the opportunity to rewrite each laboratory. Lab material will be included on quizzes.
Students writing up labs of allele frequencies and mitochondrial DNA will be required to
read and refer to materials from chapters 14-16 in their final lab reports on these topics
as well as the supplemental text, Seven Daughters of Eve.
Family Genetic History Project
Each student will develop a family pedigree using GenePro Software. The Pedigree will
require the student to follow a health conditions in their family which could have a genetic
cause. A detailed assignment sheet will be provided.
There will be 10 weekly assignment of genetics problems. These assignments will be
graded based on accuracy and completeness of the answers to the questions. Students
should write their own answers to these problems, but can discuss the problems in study
groups. Students should consult an on-line medical or paperback dictionary to assist with
Students will have biweekly quizzes. The quizzes will be the first 20 minutes of each
Friday class and cover the chapters assigned for that two week period of the class and
the lectures and lab materials covered. We will stick to quizzes on the reading schedule.
The textbook has a set of quiz questions available online. There will be no make-up
quizzes. Early quizzes can be arranged with 1 week advance notice. Students may
drop one quizzes.
The final exam is 20% of the final grade and will be based on prior quizzes and
Although formal attendance is not taken, I will notice if you are consistently absent. An
open discussion atmosphere is encouraged in the class, and students are encouraged to
ask questions about the book and genetics in the news in both class and lab.
Labs are project based. Attendance is critical, since the performance of the laboratory
skills must be under supervision of the laboratory instructor. Missing more than 2 labs
will result in loss of a letter grade in lab. Lab work may be repeated if there are not
successful results. Students may have to return to lab to complete some work based on
timing of experiments.
Students are expected to work safely and clean up after work. If the lab is left dirty or
equipment is broken, they are responsible for cleaning up and reporting problems.
Tardiness is also discouraged, but is better than absence. It is the student’s
responsibility to meet with instructor to discuss absences due to illness or other
reasons. It is also required to return to the lab between classes and perform some work.
Students should schedule time with instructor to get into the lab outside of regular class
hours for additional work.
Students are required to stay on task during labs. Discussion of the problems in a group
is encouraged. However, please complete your homework and quizzes individually. If
you have completed the assigned task, please help someone else. If you are lost, review
the book material, formulate a question, and show me your work.
Late assignments will lose a letter grade for every week late. Work book assignments
will receive a check or a check minus but not a check + if they are late.
The schedule below is intended to give you a guide to the course. The labs schedule is
subject to change based on availability of materials. Lab work may be repeated if there
are not successful results.
Week Topic Text Lab
1 Introduction to the class Chapter 1,2 Safety, family history/pedigree
Cell Biology assignment made.
2 Mitosis, Meiosis, Stem Cells Chapter 3 No Lab- Labor Day
3 Mendelian Genetics Chapter 4 Genotyping: Purifying human
DNA, Quantitate, Run Gel Set up
PCR reactions in class.
4 Extensions and exceptions to Chapter 5 Check results on gel and repeat if
Mendelian Genetics necessary. Set up RE digest
5 Sex and Multifactorial genetics Chapter 6, 7 Check genotypes for RFLP on
gel. Analysis of group genotypes.
This will be data for Lab Report 1
6 Genetics of behavior Chapter 8 Human Genome Computer Lab
Quiz 3 Lab Report 1 due
7 Genetics of Immunity Chapter 17 Seattle SNP Computer Lab
8 DNA structure and replication Chapter 9 1Set up PCR for mitochondrial
Quiz 4 sequences during class.
Video in Lab on the Genographic
9 Gene action Chapter 10 Check PCR reaction and perform
clean-up. Run gel and send out
10 Gene expression Chapter 11 Sequence analysis software lab-
Quiz 5 analyzing our sequences Lab
Analyses of mtDNA sequences
using international databases in
the context of human variation
Seattle SNP lab report due.
11 Hemoglobinopathy Lab 1
12 Gene mutation Chapter 12
13 Chromosomes Chapter 13 Hemoglobinopathy Lab 2
Quiz 6 Lab Report 3 due
14 Thanksgiving No Class
15 GMOs; Gene Therapy and Chapter 19, 20 Hemoglobinopathy lab 3
16 Reproductive Technology, Chapter 21, 22 Review and sum up labs- final lab
Genomics report due
Exam Week Final Exam (consult schedule)