Medical Genetics
Review key concepts of molecular genetics including single gene disorders, atypical inheritance, cytogenetics, population genetics, and genetic linkage.
- Single Gene Disorders
- Review how to identify pedigrees of traits which are autosomal dominant and recessive, sex-linked recessive and dominant and mitochondrial in inheritance pattern.
- Calculate recurrence risk in families to assist with genetic counseling.
- Atypical Inheritance & Factors Affecting Phenotypic Expression
- Review how incomplete penetrance, pleiotropy, repeat expansion, allelic, locus and phenotypic heterogeneity, heteroplasmy, anticipation and imprinting complicate pedigree analysis.
- Identify diseases in which each of these complications can be found.
- Cytogenetics
- Diagnose cases of chromosomal aneuploidies (Down, Edwards, Patau, Kleinfelter, Turner).
- Explain the mechanisms by which these occur (unbalanced translocations, nondisjunction, inversions, deletions, duplications, ring chromosome and isochromosome)
- Hardy-Weinburg
- Apply the Hardy-Weinberg equilibrium formula to the prediction of carrier, allele and genotype frequencies in populations.
- Apply the Hardy-Weinberg equilibrium formula to the prediction of carrier, allele and genotype frequencies in populations.
- Genetic Linkage and Indirect Diagnosis
- Use genetic distance and linkage to predict genotypes in the process of genetic counseling.
Course Content
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Course Includes
- 5 Lessons
- 8 Topics
- 6 Quizzes
- Course Certificate
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