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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.

Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs) and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a "risk" allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders.

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.

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.

Discover more types of non-Mendelian inheritance such as incomplete dominance and codominance with the Amoeba Sisters! This video uses vocabulary that was previously defined in the Amoeba Sisters Monohybrid Crosses video.

Concise overview of Mendelian genetics on a a few straight forward pages

"This modular case study tells the story of Dan and Annie, a married couple of Acadian ancestry who have a genetic form of deafblindness called Usher syndrome. They live in Southwest Louisiana, home of the largest population of DeafBlind citizens in the United States. Acadian Usher syndrome is caused by an allele of the USH1C gene that came to Louisiana with the first Acadian settlers from Canada who founded today's Cajun population. This allele's single nucleotide substitution creates an erroneous splice site that produces a defective cytoskeletal protein (harmonin) of the cochlear and vestibular hair cells and retinal photoreceptors. This splice site is the target of a promising gene therapy. The case study applies and connects Mendelian inheritance, chromosomes, cell division, vision and hearing, DNA sequences, gene expression, gene therapy and population genetics to a specific gene and its movement through generations of Dan and Annie's families.  After the introduction, each of the remaining sections can be used independently either for in-class team activities or out-of-class extensions or assignments over an entire year of introductory undergraduate biology. "

Comprehensive tutorial site.

Curricular resources including animations and games

Variety of free tutorials, data sets, and virtual labs

Links to wide array of virtual labs

ach of the four hallmarks of autosomal dominant inheritance are fulfilled. Each affected individual has an affected parent; there is no skipping of generations. Males and females are equally likely to be affected. About 1/2 of the offspring of an affected individual are affected (the recurrence risk is 1/2). Normal siblings (II-3) of affected individuals have all normal offspring.