Podcast
Questions and Answers
A researcher is studying gene expression patterns in cancer cells. How might a mutation in a non-coding regulatory region of the genome affect gene expression?
A researcher is studying gene expression patterns in cancer cells. How might a mutation in a non-coding regulatory region of the genome affect gene expression?
- By directly impacting protein structure.
- By inserting a premature stop codon.
- By changing when, where, or how much of a gene is expressed. (correct)
- By altering the amino acid sequence of the protein.
A genetic counselor is explaining predispositional genetic testing to a client. What key piece of information should the counselor emphasize about the results?
A genetic counselor is explaining predispositional genetic testing to a client. What key piece of information should the counselor emphasize about the results?
- The results will determine whether the client needs immediate gene therapy.
- The results will indicate with certainty whether the client will develop a specific disease in their lifetime.
- The results will show if the client has an increased chance of developing a disease. (correct)
- The results will definitively confirm whether the client has a disease.
In the context of genetic testing, what does incomplete penetrance refer to?
In the context of genetic testing, what does incomplete penetrance refer to?
- The potential for gene therapy to prevent disease transmission to future generations.
- The situation where individuals with a disease-causing mutation do not always exhibit clinical symptoms. (correct)
- The ineffectiveness of treating a specific genetic disorder.
- The inability to connect certain mutations to complex conditions.
A researcher is using a gene-chip, also known as a SNP-chip, in their study. What is the primary purpose of using this technology?
A researcher is using a gene-chip, also known as a SNP-chip, in their study. What is the primary purpose of using this technology?
If we look at the current human population, which are the most common kind of diseases and disorders?
If we look at the current human population, which are the most common kind of diseases and disorders?
A scientist discovers that a new disease is caused by dosage imbalances. What kind of mutation caused this?
A scientist discovers that a new disease is caused by dosage imbalances. What kind of mutation caused this?
A geneticist is reviewing data from the 1000 Genomes Project. What is the primary goal of this project?
A geneticist is reviewing data from the 1000 Genomes Project. What is the primary goal of this project?
A researcher is studying the effects of a population bottleneck on the genetic variation of a species. Which of the following statements correctly describes this concept?
A researcher is studying the effects of a population bottleneck on the genetic variation of a species. Which of the following statements correctly describes this concept?
A biotechnology company is developing new pharmacogenomic treatments. What is the fundamental aim of pharmacogenomics?
A biotechnology company is developing new pharmacogenomic treatments. What is the fundamental aim of pharmacogenomics?
A research team is working on a novel gene editing technology inspired by a system found in bacteria. What is the biological origin of CRISPR?
A research team is working on a novel gene editing technology inspired by a system found in bacteria. What is the biological origin of CRISPR?
Flashcards
What is a Gene-Chip?
What is a Gene-Chip?
A method to genotype samples for a subset of known variants
What causes dosage imbalances?
What causes dosage imbalances?
Dosage imbalances may occur due to structural arrangements or large chromosome duplications or deletions
What is CRISPR modeled after?
What is CRISPR modeled after?
CRISPR is modeled after the prokaryotic immune system
What does pre-dispositional testing tell you?
What does pre-dispositional testing tell you?
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Before a final exam...
Before a final exam...
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What does the 1000 genomes project involve?
What does the 1000 genomes project involve?
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When is the final exam?
When is the final exam?
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What does Noninvasive Prenatal Screening (NIPS) test for?
What does Noninvasive Prenatal Screening (NIPS) test for?
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Study Notes
- The final exam will be in person on March 17th from 8 am to 10 am in MCK 229
- The final exam will test your knowledge on lectures (including videos!), assigned readings, and your discussion sections
- The exam will cover new material from weeks 7-10 and major themes/concepts related to Unit 3
- The format will be similar to the first two exams, with multiple choice, true/false, and short answer/essays
- Bring a pencil, eraser, and one 4 x 6 index card with notes
- Communicate any illness to the instructor and Jenneca before the exam starts to arrange a make-up
- Students collaborating with AEC should finalize testing arrangements promptly
Grades: What Cannot Be Done
- Grades will not be bumped to pass the course or meet requirements
- Missed work from earlier in the term cannot be completed if an extension hasn't been requested
- An Incomplete to complete a large majority of the course is not allowed
- Exams cannot be retaken or and assignments cannot be redone
- A different exam will not be given, unless specified with AEC
- Extra credit is not offered
Grades: What Can Be Done
- Review challenging concepts to focus studying and improve strategies for effectiveness
- Prior exams can be reviewed to identify problem areas
- Consultation to discuss delaying the exam, taking an incomplete, or withdrawing
- Discuss accommodations with AEC
- Exams can be checked for grading errors
- Exam reviwing to offer feedback is a possibility
- Final grades are automatically rounded to the nearest whole number
- Curves can be applied, if appropriate
Studying Tips
- Avoid passive reading; instead, engage with the material through active processing
- Use Flashcards to study the key concepts
- Use small group for quizzing each other, and answering out loud
- By answering the guiding questions, take a practice test (without looking at notes)
- Ensure completion of all readings and videos on Canvas
Discussion Points
- Major course themes, most important things learned, interesting aspects, surprises, and lasting impressions after the term are up for discussion
Unit 3 Main Topics Review
- Methods for studying human genetic variation, including types of genetic variation and measurement techniques
- Findings on human genetic variation, its causes, and types of genetic tests, also race vs. ancestry are things to keep in mind
- Focus on the relationship between genetics and disease, covering genetic diseases, risk identification, and connecting variations to phenotypes
- Knowledge about genetic tests for health, including types, counseling, direct-to-consumer testing are key
- CRISPR technology, gene editing, and the related technical/ethical issues
Test Your Knowledge
- Check the ability to answer example questions
- Note topics needing review if questions can't be readily answered
- Ensure complete review of lecture and discussion materials, along with assigned readings
- Answer guiding questions and review key concepts as a starting point
Review Questions: Human Genetic Variation
- A Gene-Chip (or SNP-Chip) genotypes samples for a subset of known variants
- Humans experienced bottleneck which explains lower levels of genetic variation in modern humans today
- The 1000 Genomes Project involves sequencing whole human genomes
Review Questions: Genetics and Race
- Genetic data doesn't support categorizing modern humans into races
- Race is a social contruct rather then a biological one
- Ancestry and race are very different, there are issues with race in human genetics research
Review Questions: Genetics and Health
- Multifactorial diseases/disorders are the most common in humans today
- A mutation in a non-coding regulatory region of the genome may alter gene expression
- Dosage imbalances may occur because of structural arrangements or large chromosome duplications or deletions
- Pre-dispositional genetic testing will tell you if you are at higher risk for developing a disease
- Incomplete, reduced, or nonpenetrance in genetic testing is when clinical symptoms are not always present in individuals who carry the disease-causing mutation
- Noninvasive Prenatal Screening (NIPS) tests or cell-free DNA (cfDNA) screen fetal DNA for large chromosomal abnormalities in the fetus
- Pharmacogenomics aims to develop drugs that best fit your genetic make-up
- Gene therapy can replace faulty DNA with functional DNA
Review Questions: Gene-Editing
- CRISPR is a method that is modeled after the prokaryotic immune system
- The 2nd International Summit on Human Genome Editing focused on the ethics of human germ-line editing
Studying That Suits You
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