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Genotypes and Phenotypes 12 minutes

This interrupted case is based on a genome wide association study (GWAS) that identified the genetic variation causing some inhabitants of the Solomon Islands to have blond hair. The case illustrates the connection between genotype and phenotype, and an application of Hardy-Weinberg equilibrium. The narrative focusses on John and his new roommate, Peter, from the Solomon Islands who happens to have dark skin and blond hair. Using thought-provoking questions students learn about the genetics and the biochemistry of the hair color trait and how a single genetic variation can influence phenotype. Is migration or mutation involved?  Upon completion of the activity students will know the source of the genetic variation that causes the blond hair phenomenon in the Solomon Islands and if it has any European origins. The case was written for an upper-level genetics course, but could also be adapted for introductory biology or for a genetics course for non-majors. An optional PowerPoint presentation with clicker questions is available for download from within the Answer Key.

This case study focuses on the relationship between evolution and plasticity using a hands-on, inquiry-based approach. Students view examples from the literature that illustrate the difference between nature and nurture, or the relative contributions of genes and the environment in shaping phenotypes. Using the Trinidadian guppy system as an example, students learn about seminal work in the field in addition to exploring quantitative genetic techniques used to partition phenotypic variance between genes (G) and the environment (E). They use real data from one of the publications cited in the case to graph reaction norms illustrating GxE interactions at the family and population level. The inquiry-based approach means that students are introduced to new concepts in a stepwise fashion, and asked to develop and build their understanding using causal, explanatory evidence. The case concludes with an exercise in which students apply their knowledge to a real conservation problem in Trinidad and Tobago, where guppies are native. This case would be appropriate for an upper level biology, genetics, or evolution course.

Existing mouse models of lethal Ebola virus infection do not reproduce hallmark symptoms of Ebola hemorrhagic fever, neither delayed blood coagulation and disseminated intravascular coagulation, nor death from shock, thus restricting pathogenesis studies to non-human primates. Here we show that mice from the Collaborative Cross exhibit distinct disease phenotypes following mouse-adapted Ebola virus infection. Phenotypes range from complete resistance to lethal disease to severe hemorrhagic fever characterized by prolonged coagulation times and 100% mortality. Inflammatory signaling was associated with vascular permeability and endothelial activation, and resistance to lethal infection arose by induction of lymphocyte differentiation and cellular adhesion, likely mediated by the susceptibility allele Tek. These data indicate that genetic background determines susceptibility to Ebola hemorrhagic fever.

genotype/phenotype study using plants

This lesson, using segments from the PBS series Faces of America, explores the various types of genetic information contained in the human genome. The Introductory Activity examines the structure and composition of chromosomes and DNA, and can be used as a review or introduction to the topic. Following that, students will participate in a hands-on activity reviewing basic Mendelian genetics and the difference between genotype and phenotype. Students will also learn about different ways of tracing ancestry through DNA, and apply that to patterns of human migration and genetic population sets known as haplogroups. In the Culminating Activity, students will develop methods for determining the genetic heritage of their class, school, or community.

National Geographic Animal Photos- huge selection of high quality images; use for phenotypes

This case study was developed to teach the topic of human ABO blood type and genetic inheritance in biology courses at the lower undergraduate level or upper high school level. It is suitable for entry level biology, genetics, and physiology courses. The case narrative tells the story of Kevin, a teenager who is puzzled by the fact that neither of his parents can donate blood to him. He and his best friend ask their biology teacher for help, and she explains human ABO blood types at the molecular and genetic level to solve the mystery. The case consists of three sections, which can be used sequentially or separately. After completing the case study, students will understand the molecular basis of ABO blood types and how genes control the phenotype and genotype of an individual. They will also have a better understanding of how human ABO blood type is inherited from generation to generation.

To address this issue, we have developed case studies that track the evolution of traits from their origination in DNA mutation, to the production of different proteins, to the fixation of alternate macroscopic phenotypes in reproductively isolated populations.

Explore eight different mutations with graphics, gene explanations, and phenotypic effects.

Learn to use Online Mendelian Inheritance in Man®, or OMIM®, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

Learn how to set up and solve a genetic problem involving multiple alleles using ABO blood types as an example! The Amoeba Sisters walk you through the different phenotypes/genotypes of ABO blood types and how to solve these problems using a Punnett square.

These case studies heralded a new appreciation for the phenomenon of genetic chimerism-when an individual carries two or more genetically distinct cell lines in different parts of her body. Until the advent of techniques for blood typing and karyotyping cells, genetic chimeras where thought to be very rare. They only came to light when the phenotypes associated with the two distinct genomes were so discordant that the resulting individual was clearly exceptional, with patches of distinct skin coloration throughout the body, for example, or hermaphroditic genitals. In reality, genetic chimeras may be quite common, disguised in perfectly normal bodies harboring genetically distinct cell lineages.

A complete understanding of evolution requires knowledge that spans many biological sub-disciplines. However, students are often taught evolution in the context of ecological systems and isolated from genetic and cellular ones. To address this issue, we have developed case studies that track the evolution of traits from their origination in DNA mutation, to the production of different proteins, to the fixation of alternate macroscopic phenotypes in reproductively isolated populations.

This directed case study was developed in order to present genomic data to students, allow them to interpret the impact of genetic variations on phenotype, and to explore precision medicine. Students are introduced to "Josie," a college sophomore who decides to have her genome sequenced after learning about genome-wide association studies (GWAS) in class. As students work  through the case, they learn about the different technologies that can be used in GWAS studies and interpret Josie's results for a subset of genetic markers that affect a range of traits from pharmacogenetics to disease risk alleles and non-pathogenic traits. Students are confronted with ethical issues such as duty to inform, actionable results, and variants of unknown significance (VUS). Students are also asked to reflect on their feelings about getting genomic testing for themselves. An optional activity for advanced students (included in the teaching notes) involves using the Gene database at NCBI to explore variants of the CYP2C9 gene. The case study is appropriate for use in undergraduate genetics or molecular biology classrooms.

This clicker case addresses several concepts related to the evolutionary ecology of herbivore defenses. A survey of several different studies that investigated chemical defenses in Thymus vulgaris (thyme) gives students the opportunity to develop hypotheses, pose potential experiments, and interpret data to develop a better understanding of not only herbivore deterrence, but also how natural selection can involve different pressures selecting for different phenotypes. The case study incorporates group discussion, analysis of experimental design, and data evaluation as central activities. It can be taught in a single 50-minute class session, an economy that is achieved in part by using a "flipped" approach. Students prepare outside of class by watching several short videos (one of which was made by the author) that teach the basics of herbivore deterrence and abiotic and biotic forces in the environment that can influence plant adaptations. The case study was designed for use in a large introductory-level class, but would also be appropriate for smaller classes or upper-level evolution courses.

An innovative new breeding simulation helps reveal genetic ratios in offspring. With the heredity level of the ConnectedBio Multi-Level Simulation (MLS), students breed pairs of mice with different fur colors and observe the phenotypic ratios in the resulting offspring. The goal of this activity is to demystify the science behind Punnett Squares and encourage students to explore data and statistical representations in genetics and heredity.

The 18-year-olds from Gloucester, U.K. are two of the five children born to their Caucasian father and "half-Jamaican" mother, World Wide Features reports. While their other siblings have a blend of features from their parents, Lucy and Maria are opposites: Lucy has fair skin and red hair, while Maria has caramel skin and dark hair.