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BIOH 320 – Biomedical Genetics Montana State University Fall Semester 2021 Online, Asynchronous Format Instructor Marc Mergy, Ph.D. Goat farm, Bend, OR Phone: 615-870-9404 Email: [email protected] Office Hours Tuesdays 8:30-10 pm, Fridays 8-9 am By appointment – please email, text, call, etc. Textbook Genetics: From Genes to Genomes, 7th edition, Hartwell, Goldberg, Fischer, and Hood, eds. Course Description This course serves as an introduction to the fundamental principles of eukaryotic molecular genetics. We will emphasize the genetics of major model organisms used in biomedical research and how those models can be exploited to understand human biology and disease. Course Information Course information and materials (lecture notes, study guides, etc.) will be available on Brightspace LE (D2L). Access Brightspace at https://ecat1.montana.edu. ADA Compliance Reasonable accommodations will be provided for all persons with disabilities to ensure equal participation in the course. If you have a documented disability for which you are or may be requesting accommodation, please contact Dr. Mergy and the MSU Disability, Re-entry, and Veteran Services (DRV) office as soon as possible. Student Conduct Policy This course adheres to the MSU Student Conduct Code and Instructor Responsibilities available at http://www2.montana.edu/policy/student_conduct/. The penalty for the first violation of the student conduct policy (i.e. cheating on exams or quizzes, modifying graded assignments and returning them for credit, etc.) will be a grade of zero (‘0’) on the assignment/quiz/exam in question. Subsequent offenses may result in a reduced grade for the course, removal from the course, and/or suspension/expulsion from the University.

Grades Grading for the course will be out of 800 possible points – 3 midterm exams, each worth 100 points; 10 quizzes, each worth 10 points; 2 homework problem sets, each worth 25 points; Genetics in Society writing assignment worth 150 points (100 points for the final written product, 50 points for writing studio participation); cumulative final exam, worth 200 points. For final grades, your letter grade will be determined based on where your percentage score falls within the following ranges: A AB+ B BC+ C CD+ D DF

93-100% 90-92% 87-89% 83-86% 80-82% 77-79% 73-76% 70-72% 67-69% 63-66% 60-62% below 60%

Class Policies Make-up exams: If you have a foreseeable conflict and cannot take an exam on the scheduled date for any reason, please notify Dr. Mergy at least one week in advance and we will arrange a time for you to make up the exam. If you are unable to take an exam on the scheduled date due to illness (or other extenuating circumstance), you will only be able to take a make-up exam with a signed doctor’s note documenting your illness (or similar official documentation for other circumstances). Note: make-up exams may be different from the exam given in class. Extra credit/curve: There will be extra credit opportunities on exams and quizzes (i.e. bonus questions…sometimes related to course material, sometimes not). However, there are not extra credit opportunities outside of class. Please devote your time to studying. Individual assignments will not be curved. The overall course grade will be curved at the end of the semester so that the course average is at least 80%. Short answer/essay grading: Many exam/quiz questions may be answered most succinctly with a picture or diagram. Feel free to include drawings in your answers but be sure to include enough text to demonstrate to me that you know what your illustration shows.

If you provide more information in your answers than is asked for in a question, you will be graded on the entire answer. Points will be deducted for incorrect information, even if it is irrelevant to the question asked. Irrelevant, but factually correct information will not be penalized. Re-grading: Students have one week after graded exams/quizzes are returned to request that any question(s) be re-graded. Please submit in writing (email) a brief explanation of your dispute with the question as well as the physical copy of the graded exam/quiz in question. Communication: Please feel free to contact me about the course at any time. Text messages, phone calls, emails, etc. are all welcome. I will make every effort to respond in a timely manner (typically 12-24 hours, if not sooner). I have given you my personal phone number. Please do not text/call between 10 pm and 7 am. Emails are fine – I will reply if I’m awake. Information that I need to send to the entire class will be sent to the email address that you have on file with the University (not necessarily your MSU email address). Information will also be posted as an announcement on D2L. Questions and answers: It is very likely that if you have a question about course content, at least one of your classmates does, too. Please do not hesitate to ask questions in class, office hours, via text or email, etc. I will remove all of your identifying information and periodically send out questions and my answers to the entire class (unless you specifically ask me not to do so). Learning Outcomes By the end of the course, students will be able to: -understand the basic vocabulary of genetics, including distinctions between genotype and phenotype, dominant vs. recessive, mutations, and alleles -master Mendel’s basic laws of segregation and independent assortment -understand the consequences of various extensions of Mendel’s laws including variations in patterns of dominant gene expression, penetrance, expressivity, pleiotropy, epistasis, and gene linkage -understand meiotic recombination (crossing over) and the process of mapping genes along chromosomes based on recombination frequency -predict offspring ratios (genotype and phenotype) using Punnett squares and simple probability theory for linked and unlinked genes

-test the goodness-of-fit of experimental data and extend those data to theoretical predictions using the chi-squared test -analyze pedigrees to determine dominant or recessive modes of inheritance, genotypes, and predict offspring ratios -describe cellular and chromosomal events that occur during the eukaryotic cell cycle and gametogenesis -describe chromosome behavior and changes in chromosome structure and number as a cell progresses through the mitotic cell cycle or through meiosis, and how these events relate to and underlie Mendel’s laws -understand the causes and be able to predict the consequences of variation in chromosome structure and number -understand different types of mutation, including point mutations, deletions, insertions, inversions, and translocations at both the molecular and phenotype levels -understand the concept of an allele and its various polymorphic forms -explain how meiosis and random fertilization contribute to genetic variability in sexually reproducing organisms -understand the fundamental mechanisms of the regulation of gene expression in prokaryotes and eukaryotes -understand the structure and organization of prokaryotic and eukaryotic chromosomes -understand how major genetic model organisms are used in biomedical research to investigate gene function -understand basic methods of molecular biology including restriction mapping, recombinant DNA, polymerase chain reaction (PCR), gel electrophoresis, hybridization, Southern and Northern blotting, cDNA and genomic library construction, and DNA sequencing -understand the relationship between gene mutation and human genetic disease...