Course Title and Number:

IST 341 Issues in Human Genetics

Instructors:

Dr. Elizabeth Murray

241 G BBSC

Office: 696-3515

Cell: 617-6198

Office Hours: M 3-5

Tuesday/Thursday2-3:30 PM

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

Required Text(s):

Human Genetics, Concepts and Applications7thor 8thEdition by Ricki Lewis. McGraw Hill.

Case Workbook to accompany Human Genetics by Ricki Lewis McGraw Hill

Additional Study Aids:

Text Web PageLink:

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 information.

Other websites worth visiting are:

Computer Requirements:

Access to a Pentium computer with Microsoft Office 2007, GenePro, Internet Explorer and WebCT Vista.

Desired Learner Outcomes/Objectives:

Course 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 genetic engineering.
  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.

Laboratory Objectives:

After completion of the laboratory portion of this class, students will have demonstrated the following skills:

  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 patterns
  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 Exam20%

Family Tree10%

Problem sets 10%

Class participation 5%

Grading Policy:

A = 90100 %

B = 8089 %

C = 7079 %

D = 6069 %

E < 60%

Lab

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 ( There will befour 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.

Problems

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 medical terminology.

Quizzes

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.

Final Exam

The final exam is 20% of the final grade and will be based on prior quizzes and laboratories.

Class Participation

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.

Class Policies:

Attendance Policy:

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:

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.

Course Outline:

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
Cell Biology / Chapter 1,2 / Safety, family history/pedigree assignment made.
2 / Mitosis, Meiosis, Stem Cells
Quiz 1 / 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 Mendelian Genetics
Quiz 2 / Chapter 5 / Check results on gel and repeat if 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
Quiz 3 / Chapter 8 / Human Genome Computer Lab
Lab Report 1 due
7 / Genetics of Immunity / Chapter 17 / Seattle SNP Computer Lab
8 / DNA structure and replication
Quiz 4 / Chapter 9 / 1Set up PCR for mitochondrial sequences during class.
Video in Lab on the Genographic Project.
9 / Gene action / Chapter 10 / Check PCR reaction and perform clean-up. Run gel and send out for sequencing.
10 / Gene expression
Quiz 5 / Chapter 11 / Sequence analysis software lab- analyzing our sequences Lab Analyses of mtDNA sequences using international databases in the context of human variation and evolution
Seattle SNP lab report due.
11 / Hemoglobinopathy Lab 1
12 / Gene mutation / Chapter 12
13 / Chromosomes
Quiz 6 / Chapter 13 / Hemoglobinopathy Lab 2
Lab Report 3 due
14 / Thanksgiving / No Class
15 / GMOs; Gene Therapy and Genetic Counseling
Quiz 7 / Chapter 19, 20 / Hemoglobinopathy lab 3
16 / Reproductive Technology, Genomics / Chapter 21, 22 / Review and sum up labs- final lab report due
Exam Week / Final Exam (consult schedule)