Differentiate between genes, alleles, proteins, and traits.
Describe the relationships between genes, alleles, proteins, and traits.
Define the term “genetic disease”.
Correctly explain what it meant by the concepts dominant and recessive in the context of genetics.
Correctly explain what is meant by the concepts dominant and recessive in the context of genetics.
Construct a pedigree for a simple Mendelian trait.
Predict the chances of passing down an allele to offspring.
Identify affected individuals based on a combination of genetic risk and phenotype.
Evaluate risk of inheriting a Mendelian trait based on pedigree information.
Vision and Change Core Concepts and Competencies (http://visionandchange.org)
Core Concept:
Information Flow, Exchange, and Storage: The growth and behavior of organisms are activated through the expression of genetic information in context
Core Competencies:
Ability to apply process of science: Biology is evidence based and grounded in the formal practices of observation, experimentation, and hypothesis testing.
Ability to use quantitative reasoning: Biology relies on applications of quantitative analysis and mathematical reasoning.
Ability to communicate and collaborate: Biology is a collaborative scientific discipline.
Biocore Guide (Brownell et al., https://doi.org/10.1187/cbe.13-12-0233)
Multiple molecular mechanisms, including DNA damage and errors in replication, lead to the generation of random mutations. These mutations create new alleles that can be inherited via mitosis, meiosis, or cell division.
Mutations that change protein structure and/or regulation can impact anatomy and physiological function at all levels of organization.
Most organisms have anatomical and physiological traits that tend to increase their fitness for a particular environment.
Next Gen Science Standards (http://www.nextgenscience.org/)
All cells contain genetic information in the form of DNA molecules. Genes are regions in the DNA that contain the instructions that code for the formation of proteins, which carry out most of the work of cells. (HS-LS1-1) (Note: This Disciplinary Core Idea is also addressed by HS-LS3- 1.)
All cells contain genetic information in the form of DNA molecules. Genes are regions in the DNA that contain the instructions that code for the formation of proteins. (secondary to HS-LS3-1) (Note: This Disciplinary C ore Idea is also addressed by HS -LS1-1.)
Each chromosome consists of a single very long DNA molecule, and each gene on the chromosome is a particular segment of that DNA . The instructions for forming species’ characteristics are carried in DNA . All cells in an organism have the same genetic content, but the genes used (expressed) by the cell may be regulated in different ways. Not all DNA codes for a protein; some segments of DNA are involved in regulatory or structural functions, and some have no as-yet known function. (HS-LS3-1)
Process of Science Skills, Pelaez, N, et al. “The Basic Competencies of Biological Experimentation: Concept-Skill Statements“ (2017). PIBERG Instructional Innovation Materials. Paper 4. http://docs.lib.purdue.edu/pibergiim/4
Posing problems
Library research is an important step
Generating hypotheses
Observing nature
Interpreting/evaluating data
Visual representations used for interpretation of data
Determining followup
New knowledge incorporated with old to form new hypotheses
There is no connection between the concept of a gene and the physical nature of a gene. Genes code for traits (directly).
Alleles are equivalent to different genes/traits (absence of protein/other factors in the process).
Genetic diseases are always recessive.
“Affected” means “bad” or “disease”
Dominant is better, stronger and/or more common than recessive.
Students do not know the conventions of pedigree construction.
A single family must reflect the percentages found in a Punnett square (naïve view of statistics/risk)
Genotypes are based on phenotype only, without considering familial relationships.
The Central Dogma explains how a gene leads to a trait.
Negative traits can be encoded by dominant alleles.
Dominant allele is not always more common.
“Stronger” and “better” are not appropriate descriptors of a dominant allele.
Identification of appropriate markers for genetic relatedness within a pedigree
For an autosomal gene, each parent has a 50% chance of passing on each of their two alleles to any child.
The risk for genetic disease based on parental genotypes.
Genotype assignment should take into consideration both phenotype and family information.
Emmons CE. Studying Simple and Complex Traits Using Pedigrees Produced From a Large Database. J Microbiol Biol Educ. 2010. 11(2):156-157
Smith MK, Merrill S. Why do Some People Inherit a Predisposition to Cancer? A small group activity on cancer genetics. CourseSource. 2014. https://doi.org/10.24918/cs.2014.11
Brickman P. Bloodline: a Human Genetics Case. National Center for Case Study Teaching In Science. http://sciencecases.lib.buffalo.edu/cs/collection/detail.asp?case_id=572&id=572
Acknowledgement
This material is based in part upon work supported by National Science Foundation (NSF) grants 1432286 and 1432303. Any opinions, findings and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation.
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